temporomandibular joint dysfunction in marfan syndrome

7
Temporomandibular joint dysfunction in Marfan syndrome Oskar Bauss, Dr med, Dr med dent, a Reza Sadat-Khonsari, Dr med dent, b Christian Fenske, Dr med dent, PhD, c Werner Engelke, Dr med, PhD, d and Rainer Schwestka-Polly, Dr med dent, PhD, e Hannover, Germany, Geneva, Switzerland, Go ¨ttingen, Germany, Hamburg, Germany, and Minden, Germany HANNOVER MEDICAL SCHOOL, UNIVERSITY DENTAL SCHOOL OF GENEVA, GEORG-AUGUST UNIVERSITY GO ¨ TTINGEN, UNIVERSITY OF HAMBURG, AND GENERAL HOSPITAL MINDEN Objective. The aim of this study was to examine the prevalence of signs and symptoms of temporomandibular joint (TMJ) dysfunction in persons with Marfan syndrome. Study design. A questionnaire was distributed to 350 patients with Marfan syndrome. Twenty-one patients were additionally subjected to a clinical examination and magnetic resonance imaging (MRI) of the TMJ. Results. The prevalence of symptoms of TMJ dysfunction was 51.6% (n = 145), with 24.2 % (n = 68) indicating symptoms of subluxation, and 34.9% (n = 98) of the patients already undergoing medical treatment for their TMJ problems. Anterior disc displacement with and without reduction was observed in 17 of the examined patients (81.0%), with 4 of these patients additionally showing osteoarthrosis of the affected temporomandibular joints. Conclusion. TMJ dysfunction appears to be an important aspect in Marfan syndrome. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004;97:592-8) Marfan syndrome was first described in 1896 by the French pediatrician Antoine Bernard-Jean Marfan 1 and represents a connective tissue disorder with dominant autosomal inheritance. The incidence is estimated to be at least 1 case per 10 000 individuals. 2-4 The connective tissue dysplasia underlying Marfan syndrome is caused by a mutation in the fibrillin gene on chromosome 15, which results in quantitative and/or qualitative changes of fibrillin; 25% to 35% of all cases are most likely results of new mutations. 5-8 Fibrillin, which represents an important component in microfibrils and in the elastic fibers of the connective tissue, occurs in many areas of the human body (eg, in the skeletal and cardiovascular systems, and in the eyes). 9-11 The diagnostic features of Marfan syndrome particular to each organ system have been described elsewhere. 12-17 In addition, various publications have reported craniofacial and oral manifestations of patients with Marfan syndrome. 8,18-24 Though joint hypermobility is a common finding in Marfan syndrome, 25-29 only scant attention was paid in the past to temporomandibular joint (TMJ) dysfunction. 8,22,30 Therefore, the aim of the present study was to examine the prevalence of sub- jective TMJ complaints in persons with Marfan syn- drome and to present the results obtained from the clinical examination and magnetic resonance imaging (MRI) of 21 patients. For assessment of the prevalence of subjective TMJ complaints in persons with Marfan syndrome, a mail surveyebased research approach was found appropriate since these cases are few and far apart. PATIENTS AND METHODS Questionnaire In collaboration with the German Marfan Foundation, a questionnaire was distributed to all 350 members with Marfan syndrome; 225 (64.3%) persons were female and 125 (35.7%) were male. The mean age was 41.3 years. To our knowledge, no previous reports have examined the prevalence of Marfan syndrome in Germany. However, since the incidence is estimated to be at least 1 case per 10 000 individuals, 2-4 it can be concluded that the sample size represents about 5% of the number of affected individuals in Germany. The objective of the questionnaire was to determine the frequency of symptoms of functional disorders involving the TMJ. A standardized questionnaire was used during this investigation. 31 In order to obtain more detailed information with respect to the prevalence of TMJ subluxation, the cited questionnaire was modified The authors wish to thank the Deutsche Marfan Hilfe e.V. (German Marfan Foundation) for its support in carrying out this study. a Assistant Professor, Department of Orthodontics, Hannover Medical School, Germany, and Research Fellow, Department of Orthodontics, University Dental School of Geneva Geneva, Switzerland. b Assistant Professor, Department of Orthodontics, Georg-August- University Go ¨ttingen, Germany. c Associate Professor, Department of Prosthodontics, University of Hamburg, Germany. d Professor and Head, Department of Oral and Maxillofacial Surgery, General Hospital Minden, Germany. e Professor and Head, Department of Orthodontics, Hannover Medical School, Germany. Received for publication May 27, 2003; returned for revision Aug 25, 2003; accepted for publication Oct 27, 2003. 1079-2104/$ - see front matter Ó 2004 Elsevier Inc. All rights reserved. doi:10.1016/j.tripleo.2003.10.024 592

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Page 1: Temporomandibular joint dysfunction in Marfan syndrome

Temporomandibular joint dysfunction in Marfan syndrome

Oskar Bauss, Dr med, Dr med dent,a Reza Sadat-Khonsari, Dr med dent,b Christian Fenske, Dr med dent,

PhD,c Werner Engelke, Dr med, PhD,d and Rainer Schwestka-Polly, Dr med dent, PhD,e Hannover,

Germany, Geneva, Switzerland, Gottingen, Germany, Hamburg, Germany, and Minden, GermanyHANNOVER MEDICAL SCHOOL, UNIVERSITY DENTAL SCHOOL OF GENEVA, GEORG-AUGUST UNIVERSITYGOTTINGEN, UNIVERSITY OF HAMBURG, AND GENERAL HOSPITAL MINDEN

Objective. The aim of this study was to examine the prevalence of signs and symptoms of temporomandibular joint (TMJ)dysfunction in persons with Marfan syndrome.Study design. A questionnaire was distributed to 350 patients with Marfan syndrome. Twenty-one patients wereadditionally subjected to a clinical examination and magnetic resonance imaging (MRI) of the TMJ.Results. The prevalence of symptoms of TMJ dysfunction was 51.6% (n = 145), with 24.2 % (n = 68) indicating symptomsof subluxation, and 34.9% (n = 98) of the patients already undergoing medical treatment for their TMJ problems.Anterior disc displacement with and without reduction was observed in 17 of the examined patients (81.0%), with 4 ofthese patients additionally showing osteoarthrosis of the affected temporomandibular joints.Conclusion. TMJ dysfunction appears to be an important aspect in Marfan syndrome.(Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004;97:592-8)

Marfan syndrome was first described in 1896 by the

French pediatrician Antoine Bernard-Jean Marfan1 and

represents a connective tissue disorder with dominant

autosomal inheritance. The incidence is estimated to be

at least 1 case per 10 000 individuals.2-4 The connective

tissue dysplasia underlying Marfan syndrome is caused

by a mutation in the fibrillin gene on chromosome 15,

which results in quantitative and/or qualitative changes

of fibrillin; 25% to 35% of all cases are most likely

results of new mutations.5-8 Fibrillin, which represents

an important component in microfibrils and in the elastic

fibers of the connective tissue, occurs in many areas of

the human body (eg, in the skeletal and cardiovascular

systems, and in the eyes).9-11 The diagnostic features of

Marfan syndrome particular to each organ system have

been described elsewhere.12-17

The authors wish to thank the Deutsche Marfan Hilfe e.V. (German

Marfan Foundation) for its support in carrying out this study.aAssistant Professor, Department of Orthodontics, Hannover Medical

School, Germany, and Research Fellow, Department of Orthodontics,

University Dental School of Geneva Geneva, Switzerland.bAssistant Professor, Department of Orthodontics, Georg-August-

University Gottingen, Germany.cAssociate Professor, Department of Prosthodontics, University of

Hamburg, Germany.dProfessor and Head, Department of Oral and Maxillofacial Surgery,

General Hospital Minden, Germany.eProfessor and Head, Department of Orthodontics, Hannover Medical

School, Germany.

Received for publication May 27, 2003; returned for revision Aug 25,

2003; accepted for publication Oct 27, 2003.

1079-2104/$ - see front matter

� 2004 Elsevier Inc. All rights reserved.

doi:10.1016/j.tripleo.2003.10.024

592

In addition, various publications have reported

craniofacial and oral manifestations of patients with

Marfan syndrome.8,18-24 Though joint hypermobility is

a common finding in Marfan syndrome,25-29 only scant

attention was paid in the past to temporomandibular joint

(TMJ) dysfunction.8,22,30 Therefore, the aim of the

present study was to examine the prevalence of sub-

jective TMJ complaints in persons with Marfan syn-

drome and to present the results obtained from the

clinical examination and magnetic resonance imaging

(MRI) of 21 patients. For assessment of the prevalence of

subjective TMJ complaints in persons with Marfan

syndrome, a mail surveyebased research approach was

found appropriate since these cases are few and far apart.

PATIENTS AND METHODS

QuestionnaireIn collaboration with the German Marfan Foundation,

a questionnaire was distributed to all 350 members with

Marfan syndrome; 225 (64.3%) persons were female and

125 (35.7%) were male. The mean age was 41.3 years.

To our knowledge, no previous reports have examined

the prevalence of Marfan syndrome in Germany.

However, since the incidence is estimated to be at least

1 case per 10 000 individuals,2-4 it can be concluded that

the sample size represents about 5% of the number of

affected individuals in Germany.

The objective of the questionnaire was to determine

the frequency of symptoms of functional disorders

involving the TMJ. A standardized questionnaire was

used during this investigation.31 In order to obtain more

detailed information with respect to the prevalence of

TMJ subluxation, the cited questionnaire was modified

Page 2: Temporomandibular joint dysfunction in Marfan syndrome

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGYVolume 97, Number 5

Bauss et al 593

with some additional questions. Hence, the respondents

were also specifically asked about temporary restrictions

to their mouth-opening movement and jolting move-

ments in the TMJ area, as well as restrictions to mouth

closing, as found in TMJ subluxation.32 In addition, in

cases where respondents were undergoing medical

treatment for their TMJ complaints, they were asked

about the type of treatment. Multiple listings of

complaints were possible.

Clinical examination and MRIAll 46 respondents living not more than 125 miles

from the Department of Oral and Maxillofacial Surgery

in Minden were invited for an additional clinical exami-

nation and MRI of the TMJs; 21 patients with Marfan

syndrome responded to this invitation. The average age

of the 11 female and 10 male patients was 38 years

(range, 17-57 years). Thirteen patients (61.9%) reported

no TMJ symptoms and were free of pain, whereas the

remaining 8 patients (38.1%) reported subjective com-

plaints in the TMJ area (TMJ sounds, pain on movement

of the mandible, symptoms of TMJ subluxation).

All subjects were examined clinically prior to MRI

being performed by an experienced investigator. The

clinical examination followed a standardized protocol33

and included evaluation of the mandibular range of

motion (maximum unassisted and maximum assisted

jaw opening, and lateral movements), TMJ palpation and

registration of TMJ pain during unassisted or assisted

mandibular opening, muscle palpation, and joint sound

analysis. The maximum unassisted and maximum

assisted jaw openings were measured as the interincisal

distance plus central incisor vertical overbite, using

a millimeter ruler. The maximum unassisted jaw opening

was measured at maximum opening under voluntary

effort. Assisted maximum mandibular opening was

measured by expanding the active opening while the

patient’s musculature was relaxed. Lateral movements

were registered relative to the maxillary midline, with the

teeth slightly separated. TMJ pain on palpation was

assessed through bilateral manual palpation of the lateral

aspect of the condyle. Pain during unassisted mandibular

opening was registered by asking the patient to open the

jaw as far as possible. The parameter of TMJ pain during

assisted opening was evaluated by applying force to the

lower and upper incisors with the middle finger and

thumb. A positive pain score was recorded by the

examiner if the patient experienced a distinctively pain-

ful sensation in the TMJ during the procedure. Muscle

pain was rated as positive or negative using a bilateral

manual palpation technique on the anterior, middle, and

posterior temporalis, the tendon of the temporalis, and

the superficial and deep masseter. TMJ sounds were

registered by auscultation and manual palpation during

vertical opening and closing movements of the mandi-

ble. If there was uncertainty about the side concerned, the

patient was consulted. Joint sounds were described as

single or reciprocal clicks.34

After the clinical examination, all 21 patients un-

derwent bilateral MRI of their TMJs. MRI was

performed at 1.5T (Magnetom Vision, Siemens AG,

Erlangen, Germany) with a special surface coil (TMJ

coil). Paracoronal and parasagittal slices of each TMJ

were obtained by using an optimized proton-weighted

TSE sequence (TR 2800 ms, TE 15 ms) and a turbo

inversion recovery magnitude sequence (TR 4000 ms,

TE 30 ms, TI 150 ms). A slice thickness of 3 mm and

a 256-matrix with a field of view of 145 mm were used.

Sequential bilateral T1-weighted and T2-weighted

images were made at the closed-mouth and the re-

spective maximum open-mouth positions. For fixation of

mouth opening during the scans, a standardized device

was inserted between the arches in all patients. MR

images were corrected to the horizontal angulation of the

long axis of the condyle. The radiological evaluation was

performed by an experienced examiner who was blind to

the medical history and the clinical diagnosis of the

patient. Those MRI images were selected for analysis of

the disk-condyle relationship (DCR) that depicted the

disk, condyle, articular eminence, and glenoid fossa.

Normal disk position was defined by location of the

posterior band of the disk at the superior or 12 o’clock

position relative to the condyle. Disk displacement was

defined as the posterior band of the disk being in an

anterior, anteromedial, anterolateral, medial, or lateral

position relative to the superior part of the condyle.34

Diagnosis of TMJ DCR was categorized as normal, disk

displacement with reduction, or disk displacement

without reduction. Normal function was registered when

a disk in the superior position in the closed mouth

position maintained a position interposed between the

condyle and the articular eminence in the open mouth

position. Disk displacement with reduction was noted

when a displaced disk in the closed mouth position

assumed a position interposed between the condyle and

the articular eminence in the open mouth position. Disk

displacement without reduction was noted when a dis-

placed disk in the closed mouth position did not achieve

a position between the condyle and the articular

eminence in the open mouth position.35 An MRI

diagnosis of osteoarthrosis was defined by the presence

of flattening associated with subchondral sclerosis,

surface irregularities and erosion of the condyle, or

presence of condylar deformities associated with

flattening, subchondral sclerosis, surface irregularities,

erosion, and osteophytes.36,37

Reliability scores were determined by a blind test-

retest method on 30 consecutive patients (clinical

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ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGYMay 2004

594 Bauss et al

Fig 1. Frequency of different symptoms of temporomandibular joint (TMJ) dysfunction. 1: Pain at rest; 2: Pain on mouth opening; 3:

Pain on chewing; 4: Joint sounds (clicking or crepitation); 5: Symptoms of TMJ subluxation; 6: Recurring symptoms of TMJ

subluxation.

diagnoses) and on a set of 80 images in 40 randomly

selected subjects (radiological diagnoses), thereby

allowing for intraobserver comparison. Evaluation of

the statistical significance of the diagnostic percentage

agreement between the interpretations was performed

using the k statistical test.38 The intraobserver agreement

for the clinical diagnoses was substantial for pain during

muscle palpation (k = 0.73) and very good for the

remaining clinical diagnoses (k > 0.81). All radiological

diagnoses revealed very good intraobserver reliability

(k > 0.81).

RESULTS

QuestionnaireA total of 281 questionnaires (80.3%) were evaluated;

184 of the respondents were female (65.5%) and 82 were

male (29.2%). The average age was 40.7 years. Fifteen

respondents (5.3%) gave no information concerning

their age and gender.

Subjective complaints (pain, sounds) in the TMJ area

were reported by 145 respondents (51.6%). Fifty-eight

(20.6%) respondents reported pain at rest, whereas 103

(36.7%) reported pain during mouth opening and 56

(19.9%) during chewing. Ninety-two (32.7%) persons

reported subjective TMJ sounds (clicking, crepitation).

Sixty-eight (24.2%) had experienced symptoms of TMJ

subluxation with restricted mouth closing at least once,

and 18 (6.4%) reported recurring subluxation symptoms

(Fig 1). Ninety-eight (34.9 %) respondents reported

having undergone medical treatment for their TMJ com-

plaints in the past. In 86 (87.8%) of these respondents,

treatment had involved interocclusal stabilization ap-

pliances, whereas 12 (12.2%) had undergone surgery.

Clinical examination and MRI findingsSeventeen of the 21 (81.0%) examined patients (9

women and 8 men) showed signs of TMJ dysfunction in

the clinical examination. Four patients (19.0%) revealed

no signs of TMJ dysfunction and a normal position of the

disc in the MRI.

In 9 of the 13 anamnestically pain-free patients,

reciprocal clicking in one (n = 7) or both (n = 2)

temporomandibular joints accompanied by deviation

during opening movement was observed in addition to

some palpatory tenderness of the masticatory muscles.

The quality and occurrence of noise during mandibular

movement could be influenced through superior joint

loading by applying mild pressure at the inferior border

of the mandible toward the TMJ. Four of the 9 patients

experienced discomfort in the affected temporomandib-

ular joints when the joints were laterally palpated. In all

9 patients, the MRI scans showed unilateral (n = 7)

or bilateral (n = 2) anterior disc displacement with

reduction.

Four patients complained of pain in the preauricular

area, which was exacerbated by applying lateral pressure

to the temporomandibular joints. These patients showed

markedly limited mouth opening with deflection of the

lower jaw to the affected side. During the recording of

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ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGYVolume 97, Number 5

Bauss et al 595

Fig 2. Bilateral anterior disk displacement without reduction and disk deformation in a 36-year-old woman with Marfan syndrome.

A, Closed mouth. B, Open mouth. C = condyle; D = disk.

their medical history, all 4 patients reported regular

clicking in the affected joints, which disappeared when

the restricted movement appeared. In all 4 patients, MRI

confirmed the clinical diagnosis of unilateral (n = 3) and

bilateral (n = 1) disc displacement without reduction

(Fig 2).

Four patients (28-36 years) reported bilateral pain

localized to the TMJ. They also showed marked

crepitation during the opening and closing cycle, and

a great discrepancy between unassisted maximum and

assisted maximum opening, which indicated an in-

hibition of maximum opening through muscle activity.

Here, too, pain and tenderness were observed on

palpation of the masticatory muscles. MRI confirmed

the clinical indications for osteoarthrosis. All 4 cases

showed flattening of the condylar surface with osteo-

phyte formation, as well as bilateral anterior disc dis-

placement without reduction (Fig 3).

DISCUSSIONIn contrast to Ehlers-Danlos syndrome, where a pos-

sible effect of the connective tissue dysplasia on the TMJ

has been described in numerous studies,39-45 there are

only a few isolated reports with regard to Marfan

syndrome.8,22,30

The prevalence of subjective TMJ complaints in

Marfan syndrome was examined by Westling et al8 in 76

patients, but without the information being differentiated

as to type of complaint and kind of treatment. Of the

respondents in that study, 56% indicated dysfunctions

and/or pain in the TMJ area and 25% were undergoing

medical treatment for these symptoms; these figures are

comparable with the findings of the present study.

However, previous examinations have determined a high

prevalence of symptoms of TMJ dysfunction in the

population. In a survey conducted in Canada, for

instance, 48.8% of 1002 respondents gave at least 1

positive answer to the 9 questions regarding dysfunction

symptoms, whereas 13% of respondents even indicated

that they experienced pain in action or at rest.46 In

numerous cross-sectional epidemiological studies, the

frequency of symptoms is given as between 12% and

59%.47 An investigation conducted in a normal German

population found a frequency of subjective TMJ

complaints of about 35%.48 Therefore, the results of

the present investigation with respect to the frequency of

Page 5: Temporomandibular joint dysfunction in Marfan syndrome

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGYMay 2004

596 Bauss et al

Fig 3. First signs (left side) and advanced stage (right side) of osteoarthrosis of the TMJ with anterior disk displacement without

reduction in a 28-year-old man with Marfan syndrome. A, Closed mouth. B, Open mouth. C = condyle; D = disk.

pain and sounds in the TMJ area in Marfan patients

should not be overrated.

In contrast to the frequency of the above-mentioned

symptoms of TMJ dysfunction, the present study points

to a high prevalence of symptoms of TMJ subluxation in

Marfan syndrome patients. Nearly 25% of the

respondents experienced symptoms of TMJ subluxation,

which is far above the frequency reported in previous

studies in a normal population (2%-3%),49 and might be

explained by hypermobility of the disc and the TMJs,

caused by the connective tissue disorder in Marfan

syndrome.

More than 10% of the respondents in the present study

had undergone surgery for their TMJ complaints. As

opposed to Ehlers-Danlos syndrome,40-42,44 there have

to our knowledge been no previous accounts of surgical

management of TMJ disorders in Marfan patients.

Previous reports on the surgical treatment of TMJ

dysfunction in Ehlers-Danlos syndrome have stated that

the conventional treatment of discal plication should be

used with caution due to the connective tissue changes

occurring in this disease.40,42 This might also apply to

the surgical treatment of TMJ disorders in Marfan

syndrome. However, no further information was avail-

able on the kind and success of surgical treatment

performed.

As far as we know, no previous investigation with

a larger sample size has examined the prevalence of signs

of TMJ dysfunction in Marfan syndrome. Barr30

reported osteoarthrosis of the TMJ in a Marfan patient

before the age of 30, as well as bilateral TMJ clicking and

capsular tenderness in a few other patients. Nally22

observed unilateral TMJ subluxation in 1 case with

Marfan syndrome. These reports correspond to the

findings of the present investigation; 81% of the

examined patients showed unilateral or bilateral anterior

disc displacement. As the frequency in asymptomatic

volunteers has been reported to vary between 20% and

30%,50,51 a higher frequency of anterior disc displace-

ment in patients with Marfan syndrome might be

concluded. Thus, as in Ehlers-Danlos syndrome, con-

nective tissue changes in Marfan syndrome also appear

to lead to hypermobility of the disc and the TMJs.

However, there are certain aspects that have to be

considered when interpreting the results of the present

investigation. Subjects with Marfan syndrome are very

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ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGYVolume 97, Number 5

Bauss et al 597

rare and only 21 of the invited 46 patients living near the

clinic where the examination was performed responded

to an invitation. Therefore, the number of examined

patients was lower than in other studies dealing with

temporomandibular disorders. In addition, the present

study was performed without a matched control group of

patients without Marfan syndrome so that the results

could only be compared to the findings of a previously

published investigation in a normal German popu-

lation.48

However, the results of the present study suggest that

TMJ dysfunction might represent an important aspect in

Marfan syndrome. They also support the theory that, in

addition to occlusal, psychological, and parafunctional

factors,52-56 constitutional factors such as general dis-

orders of connective tissue57-59 also represent an im-

portant factor in the emergence of TMJ dysfunction.

CONCLUSIONSAn increased prevalence of TMJ subluxation and

signs and symptoms of TMJ dysfunction may be ex-

pected in patients with Marfan syndrome. This supports

the theory that connective tissue disorders should be seen

as an important etiological factor in the emergence of

TMJ dysfunction.

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Reprint requests:

Oskar Bauss, Dr med, Dr med dent

Department of Orthodontics

Hannover Medical School

Carl-Neuberg-Strasse 1

30625 Hannover, Germany

[email protected]