loeys - dietz syndrome and sleep disordered breathing
TRANSCRIPT
Loeys - Dietz Syndrome
Abdul Alraiyes MD
1
ObjectivesbullLoeys - Dietz syndrome
bullManifestationbullTypes and prevalencebullLDS and Marfanrsquos syndromebullLDS and sleep breathing disorder
bullsleep breathing disorders in patients with Maxillary morphology
bullMaxillary constrictionbullNasal airway resistancebullIncreased upper airway collapsibility
2
HPI
3
bullSleep medicine consulted for
bullUncontrolled Hypertension
bullChronic history of snoring and witnessed apneas by the mother and daytime fatigue
bullnocturnal symptoms of difficulty maintaining asleep with sleep fragmentation snoring witnessed apneas and nocturia
bulldaytime symptoms include fatigue and unpleasant dry mouth
bullSleep History
bullBedtime is 0945 and wake time is 0630 and obtains 85 hours
bullESS 224
bullNo history of excessive caffeinated drinks ETOH or illicit drugs abuse
bullNo other sleep complains reported
bull18 YO male admitted with hypertension emergency
HPI
4
bullPMH
bullHTN
bullchronic kidney disease
bullGERD
bullChronic sinusitis
bullCraniofacial dysmorphic features
bullHistory of adenotonsillectomy at age of 9 YO
bullMedication Loratadine Ranitidine Lisinopril
Physical Exam
5
VS Heart rate 102 blood pressure 15073 respiratory rate 20 saturation 97 BMI340
HEENT enlarged congested turbinates
Oral cavity shows a large tongue with very high arched palate and normal size uvula with Mallampati of 4 Crowded teeth also noticed Congested and crowded pharynx anatomy observed Micrognathia and thyromental distance was less than 7 cm
Neck was 19 inches No mass no lymphadenopathy No thyromegaly
Chest Clear to auscultation bilaterally Good air entry
Cardiovascular system was S1-S2 no murmur and regular heart beat
extremities arachnodactyly
Echocardiogram Labs
bullNormal size with mild concentric left ventricular hypertrophy
and normal systolic function but abnormal diastolic function
6
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
ObjectivesbullLoeys - Dietz syndrome
bullManifestationbullTypes and prevalencebullLDS and Marfanrsquos syndromebullLDS and sleep breathing disorder
bullsleep breathing disorders in patients with Maxillary morphology
bullMaxillary constrictionbullNasal airway resistancebullIncreased upper airway collapsibility
2
HPI
3
bullSleep medicine consulted for
bullUncontrolled Hypertension
bullChronic history of snoring and witnessed apneas by the mother and daytime fatigue
bullnocturnal symptoms of difficulty maintaining asleep with sleep fragmentation snoring witnessed apneas and nocturia
bulldaytime symptoms include fatigue and unpleasant dry mouth
bullSleep History
bullBedtime is 0945 and wake time is 0630 and obtains 85 hours
bullESS 224
bullNo history of excessive caffeinated drinks ETOH or illicit drugs abuse
bullNo other sleep complains reported
bull18 YO male admitted with hypertension emergency
HPI
4
bullPMH
bullHTN
bullchronic kidney disease
bullGERD
bullChronic sinusitis
bullCraniofacial dysmorphic features
bullHistory of adenotonsillectomy at age of 9 YO
bullMedication Loratadine Ranitidine Lisinopril
Physical Exam
5
VS Heart rate 102 blood pressure 15073 respiratory rate 20 saturation 97 BMI340
HEENT enlarged congested turbinates
Oral cavity shows a large tongue with very high arched palate and normal size uvula with Mallampati of 4 Crowded teeth also noticed Congested and crowded pharynx anatomy observed Micrognathia and thyromental distance was less than 7 cm
Neck was 19 inches No mass no lymphadenopathy No thyromegaly
Chest Clear to auscultation bilaterally Good air entry
Cardiovascular system was S1-S2 no murmur and regular heart beat
extremities arachnodactyly
Echocardiogram Labs
bullNormal size with mild concentric left ventricular hypertrophy
and normal systolic function but abnormal diastolic function
6
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
HPI
3
bullSleep medicine consulted for
bullUncontrolled Hypertension
bullChronic history of snoring and witnessed apneas by the mother and daytime fatigue
bullnocturnal symptoms of difficulty maintaining asleep with sleep fragmentation snoring witnessed apneas and nocturia
bulldaytime symptoms include fatigue and unpleasant dry mouth
bullSleep History
bullBedtime is 0945 and wake time is 0630 and obtains 85 hours
bullESS 224
bullNo history of excessive caffeinated drinks ETOH or illicit drugs abuse
bullNo other sleep complains reported
bull18 YO male admitted with hypertension emergency
HPI
4
bullPMH
bullHTN
bullchronic kidney disease
bullGERD
bullChronic sinusitis
bullCraniofacial dysmorphic features
bullHistory of adenotonsillectomy at age of 9 YO
bullMedication Loratadine Ranitidine Lisinopril
Physical Exam
5
VS Heart rate 102 blood pressure 15073 respiratory rate 20 saturation 97 BMI340
HEENT enlarged congested turbinates
Oral cavity shows a large tongue with very high arched palate and normal size uvula with Mallampati of 4 Crowded teeth also noticed Congested and crowded pharynx anatomy observed Micrognathia and thyromental distance was less than 7 cm
Neck was 19 inches No mass no lymphadenopathy No thyromegaly
Chest Clear to auscultation bilaterally Good air entry
Cardiovascular system was S1-S2 no murmur and regular heart beat
extremities arachnodactyly
Echocardiogram Labs
bullNormal size with mild concentric left ventricular hypertrophy
and normal systolic function but abnormal diastolic function
6
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
HPI
4
bullPMH
bullHTN
bullchronic kidney disease
bullGERD
bullChronic sinusitis
bullCraniofacial dysmorphic features
bullHistory of adenotonsillectomy at age of 9 YO
bullMedication Loratadine Ranitidine Lisinopril
Physical Exam
5
VS Heart rate 102 blood pressure 15073 respiratory rate 20 saturation 97 BMI340
HEENT enlarged congested turbinates
Oral cavity shows a large tongue with very high arched palate and normal size uvula with Mallampati of 4 Crowded teeth also noticed Congested and crowded pharynx anatomy observed Micrognathia and thyromental distance was less than 7 cm
Neck was 19 inches No mass no lymphadenopathy No thyromegaly
Chest Clear to auscultation bilaterally Good air entry
Cardiovascular system was S1-S2 no murmur and regular heart beat
extremities arachnodactyly
Echocardiogram Labs
bullNormal size with mild concentric left ventricular hypertrophy
and normal systolic function but abnormal diastolic function
6
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Physical Exam
5
VS Heart rate 102 blood pressure 15073 respiratory rate 20 saturation 97 BMI340
HEENT enlarged congested turbinates
Oral cavity shows a large tongue with very high arched palate and normal size uvula with Mallampati of 4 Crowded teeth also noticed Congested and crowded pharynx anatomy observed Micrognathia and thyromental distance was less than 7 cm
Neck was 19 inches No mass no lymphadenopathy No thyromegaly
Chest Clear to auscultation bilaterally Good air entry
Cardiovascular system was S1-S2 no murmur and regular heart beat
extremities arachnodactyly
Echocardiogram Labs
bullNormal size with mild concentric left ventricular hypertrophy
and normal systolic function but abnormal diastolic function
6
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Echocardiogram Labs
bullNormal size with mild concentric left ventricular hypertrophy
and normal systolic function but abnormal diastolic function
6
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
PSG
7
(RDI) of 1125
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Diagnostic portion
8
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Diagnostic portion
9
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
CPAP
10
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
11
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Loeys-Dietz Syndrome
bull Natural History
ndash The clinical and molecular characterization of 52 families with TGFBR1 and TGFBR2 mutations has been described [Loeys et al 2006]
bull Types
bull 75 Type 1 vascular skeletal and craniofacial manifestations
bull 25 Type 2 vascular skeletal and cutaneous manifestations
bull Prevalence
ndash The prevalence of LDS is unknown No apparent enrichment in any ethnic or racial group and no gender preference have been reported
12Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Clinical findings
Vascular1048698 Dilatation or dissection of the aorta1048698 Other arterial aneurysms and tortuosity
Approximately 50 had an aneurysm distant from the aortic root
13Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Clinical findings
Skeletal1048698 Pectus excavatum or pectus carinatum1048698 Scoliosis1048698 Joint laxity1048698 Arachnodactyly (spider fingers) 1048698 Talipes equinovarus
14Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Clinical findings
Craniofacial1048698 Ocular hypertelorism1048698 Bifid uvulacleft palate1048698 Craniosynostosis in which all sutures can be involved
(dolichocephaly brachycephaly and trigonocephaly)
15
Singh KK et al TGFBR1 and TGFBR2 mutations
in patients with features of Marfan syndrome and
Loeys-Dietz syndrome Hum Mutat 2006 27(8) p
770-7
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Clinical findings
Cutaneous1048698 Translucent skin1048698 Easy bruising1048698 Dystrophic scars
16Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Molecular Genetic Testing
bull Genes TGFBR1 and TGFBR2 (transforming growth factor beta receptor genes 1 and 2)
17Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Differential diagnosis
bull Marfanrsquos Syndrome
ndash FBN1 (fibrillin genes 1)
ndash Clinical manifestations
bull Ocular retinal detachment glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum tall face
bull Cardiovascular dilatation of the aorta mitral and tricuspid valve prolapse
18
Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management Curr Probl Cardiol 2008
33(1) p 7-39
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Differential diagnosis
bull Shprintzen-Goldberg Syndrome
ndash Unknown gene
ndash Clinical manifestations
bull Craniosynostosis sutures glaucoma and early cataract formation
bull Skeletal dolichostenomelia pectus excavatum arachnodactyly
bull Cardiovascular mitral regurgitation and prolapse aortic regurgitation
19Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz
syndrome Hum Mutat 2006 27(8) p 770-7
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
20
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary morphology in Sleep Apnea
OSA Control
21
eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary morphology in Sleep Apnea
22eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary morphology in Sleep Apnea
23eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Zygomatic buttress
Maxillary tuberosity
Antegonial protuberances
MaxFacial ratio
MaxMand ratio
Maxillary morphology in Sleep Apnea
24eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary morphology in Sleep Apnea
25eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary morphology in Sleep Apnea
Non of this finding has a correlation with AHI or oxygen desaturation
26eto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod 2001 23(6) p
703-14
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
27
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
bull15 Marfanrsquos syndrome patientsbull7 men and 8 womenbullLateral cephalometric radiographybullPSG
13 patients had AHI gt 5 (22 plusmn 15) eventshour
28
Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Craniofacial abnormalities and SDB in Marfanrsquos Syndrome
SE
CO
PAS and MP-H were independent projectors of oxygen desaturation
29Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities and sleep-
disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
30
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bull13 Marfanrsquos syndrome and 13 controlbullNasal resistance assessed by a posterior rhinomanometry bullDental impression done bullPSG done for 10 Marfans patients and 4 of the control
Mean NAR for the Marfans group was more than twice that in the control group (77plusmn12 vs 29 plusmn04 cm H2OLS plt0005)
31Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
bullDental impression bullICD (inter-canine distance)bullIPD (inter-premolar distance)bullIMD (inter- molar distance)bullMaximum hard palate height (MPH) bullMPHICDbullMPHIPDbullMPHIMD
32Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
33Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Maxillary constriction and nasal resistance in Marfanrsquos syndrome
Correlation of Maxillary Variablesto AHI in Patients and Control Subjects
with PSG n=14
Correlation of Maxillary Variablesto NAR in Patients and Control Subjects
n=26
34Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
35
1 Maxillary morphology and constriction2 Nasal airway resistance3 Increased upper airway collapsibility
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
The more negative the upper airway closing pressure (UACP) the less collapsible the airway
Airway Collapsibility in Marfanrsquos Syndrome
36
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Airway Collapsibility in Marfanrsquos Syndrome
37
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Airway Collapsibility in Marfanrsquos Syndrome
38
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Airway Collapsibility in Marfanrsquos Syndrome
39
Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway collapsibility during
sleep Chest 1995 108(3) p 631-5
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Treatment
40
Rapid Maxillary Expansion surgery
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Conclusion
41
bullIn Loeys - Dietz syndrome
bullCraniofacial manifestation might be a reason for sleep disorder breathing due to
1 Maxillary constriction2 Nasal airway resistance3 Increased upper airway collapsibility
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Questions
42
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
Thank You
43
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44
References
1Ammash NM TM Sundt and HM Connolly Marfan syndrome-diagnosis and management
Curr Probl Cardiol 2008 33(1) p 7-39
2Chen J et al Mutations of the TGFBR2 gene in Chinese patients with Marfan-related
syndrome Clin Invest Med 2010 33(1) p E14-21
3Cistulli PA H Gotsopoulos and CE Sullivan Relationship between craniofacial abnormalities
and sleep-disordered breathing in Marfans syndrome Chest 2001 120(5) p 1455-60
4Cistulli PA et al Influence of maxillary constriction on nasal resistance and sleep apnea
severity in patients with Marfans syndrome Chest 1996 110(5) p 1184-8
5Cistulli PA and CE Sullivan Sleep apnea in Marfans syndrome Increased upper airway
collapsibility during sleep Chest 1995 108(3) p 631-5
6Johnson PT et al Loeys-Dietz syndrome MDCT angiography findings AJR Am J Roentgenol
2007 189(1) p W29-35
7Seto BH et al Maxillary morphology in obstructive sleep apnoea syndrome Eur J Orthod
2001 23(6) p 703-14
8Singh KK et al TGFBR1 and TGFBR2 mutations in patients with features of Marfan
syndrome and Loeys-Dietz syndrome Hum Mutat 2006 27(8) p 770-7
9Verbraecken J et al Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and
Marfan a questionnaire study Clin Genet 2001 60(5) p 360-5
44