congenital heart disease
DESCRIPTION
Congenital Heart Disease. Incidence and Etiology. Incidence of 1% in general population. VSD is most common CHD TOF is most common cyanotic CHD TGA is most common cyanotic CHD presenting in infancy Etiology:Multifactorial inheritance 90%. Chromosomal 5% Single mutant gene 3% - PowerPoint PPT PresentationTRANSCRIPT
Congenital Heart Disease
Incidence of 1% in general population.VSD is most common CHDTOF is most common cyanotic CHDTGA is most common cyanotic CHD presenting in infancy
Etiology: Multifactorial inheritance 90%.Chromosomal 5%Single mutant gene 3%Environmental 2%
Incidence and Etiology
Presentations
Asymptomatic heart murmerCyanosisCongestive heart failureSyncopeShock
CHD in Chromosomal Aberrations
Incidence Most common lesionTrisomy 21 50% VSD or A-V canalTrisomy 18 90+% VSDTrisomy 13 90% VSDXO Turner 35% CoA
CHD in Single MutantGene Syndromes
Marfan’s Aortic aneurysmNoonan’s PS, ASDWilliams’ Supravalvular ASHolt-Oram ASD, VSDNF PS, CoA
Teratogens and CHD
Frequency Most commonAlcohol 25-30% VSDPhenytoin 2-3% PS,AS,CoA,PDALithium 10% EbsteinRubella 35% PPS, PDADiabetes 3-5% Hypertrophic septum
TGA, VSD, CoA(Incidence can be as high as 30-50% in poorlycontrolled DM)Lupus 50% 3rd degree heart blockPKU 25-50% TOF, VSD, ASD
Presentations
Asymptomatic (heart murmur) Small VSD, ASDCyanosis D-TGA, TOFCongestive heart failure Large L-R shunt
lesionsSyncope AS, PSShock Coarc, hypoplastic
left heart
Birth 2w 8w 4m 1y 3-5y Adolescence
VSD ASD|PDACoAASHLHSTOFTriA/SPATGATATAPVR
CHF
CHF
Shock
Shock
Shock
P. HTN
P. HTNOften asymptomatic
Cyanosis CHF
CHF CHF/syncope/murmur
CHF/HTN
Shock/Cyanosis
Shock/CyanosisCyanosis
Cyanosis/CHFShock/Cyanosis
HLHS=Hypoplastic left heart syndrome
TriA/S=Tricuspid atresia
CHF=Congestive heart failure
P.HTN=Pulmonary hypertension
FTT=Failure to thrive
Cyanotic CHD1. Truncus Arteriosus
2. Transposition of the Great Arteries
3. Tricuspid Atresia
4. Tetralogy of Fallot
5. Total Anomalous Pulmonary Venous Return
Acyanotic CHD
1. VSD2. ASD3. PDA4. Coarctation Aorta5. Aortic Stenosis6. Hypoplastic Left Heart
Cyanotic CHD with Decreased Pulmonary Blood Flow
1. Tetralogy of Fallot2. Tricuspid Atresia3. Total Anomalous Pulmonary Venous Return with obstruction
Cyanotic CHD with Increased Pulmonary Blood Flow
1. Transposition of the Great Arteries2. Truncus Arteriosus 3. Total Anomalous Venous Return withoutobstruction
Acyanotic CHD with IncreasedPulmonary Blood Flow (Volume Load)
1. ASD2. VSD3. PDA
Acyanotic CHD with PulmonaryVenous Congestion or NormalBlood Flow (Pressure Load)
1. Coarctation Aorta2. Aortic Stenosis3. Hypoplastic Left Heart4. Pulmonary Stenosis
Circulation beforebirth
Circulationafter birth
Cyanotic CHD with Decreased Pulmonary Blood Flow
1. Tetralogy of Fallot2. Tricuspid Atresia
Tetralogy of Fallot1. VSD2. Pulmonary artery stenosis3. Overriding aorta4. Right ventricular hypertrophy
Tetralogy of Fallot• Incidence of total
CHD• Age at presentation• Clinical
• Auscultation
• Most common cyanotic CHD
• Usually by 6 months• Cyanosis• Cyanotic spells (squatting)• Harsh systolic murmur• Softer if worsening
obstruction
Tetralogy of Fallot
• Radiology
• EKG
• Decreased pulmonary vascularity
• Boot-shaped heart• R-sided aortic arch• RAD, RAE, RVH
TOF treatment1. For cyanotic spells: Knee-chest position
Morphine sulfateVasoconstrictorsPropranolol
2. Iron for anemia3. Surgicala. Palliation Blalock-Taussig
Waterston shuntPott’s operation
b. Corrective at 1-5 years of age
Tetralogy of Fallot
Tetralogy of Fallot
Tricuspid Atresia
1. Normally related great arteries (69%)With small VSD and PS (most common).Intact septum with pulmonary atresiaLarge VSD without PS
2. D-transposition of great arteries (28%)
3. L-transposition of great arteries (4%)
Types
Tricuspid Atresia• Incidence:• Age at presentation
• Clinical– No obstruction
pulmonary blood flow
– Obstruction pulmonary blood flow
• Rare• Infancy, depending on pulmonary
blood flow
• Congestive heart failure Similar to VSD Cyanosis
• Variable More intense cyanosis as ductus closes
Tricuspid Atresia
• Auscultation: Systolic murmur with single S2
• Radiology:Variable Decreased pulmonary vasculature
Treatment Tricuspid Atresia
1. PGE1 to keep ductus open2. Balloon septostomy if no VSD3. Surgicala. Palliation
systemic-pulmonary shunt (PS)pulmonary artery banding (large VSD)
b. CorrectiveFontan
Cyanotic CHD with Increased Pulmonary Blood Flow
1. Truncus Arteriosus2. Transposition of the Great Arteries3. Total Anomalous Pulmonary Venous Return
Truncus Arteriosus• Incidence• Age at presentation• Clinical
• Auscultation• Pulmonary
vasculature• EKG
• Rare• Neonatal• Cyanosis• Signs of CHF• Wide pule pressure
and bounding arterial pulses
• Harsh systolic murmur• Increased• BVH or RVH
Truncus Arteriosus
• Associations
• Treatment
• Right sided aortic arch• Thymic aplasia - DiGeorge
Syndrome• Medical• Pulmonary artery bending• Rastelli’s operation
Truncus Arteriosus
Transposition of the Great Vessels D-type
D-transposition, complete transposition, mostcommon form
-Aorta arises from the right ventricle.-Pulmonary artery arises from the left ventricle. -PDA is the only connection between systemic and pulmonary circulations, although VSD in 40%.
Transposition of the Great Vessels L-type
L-transposition, also called corrected transposition
-Both ventricles and great vessels aretransposed
D-TGA• Incidence
• Age presentation
• Clinical
• Auscultation• Radiology
• EKG
• 8% of all CHD• Male:female 2:1• Newborn, when ductus closes• Cyanosis within 1st 48 hrs if no
VSD• CHF when large left to right
shunts • Loud single S2, no murmur• Egg-on-a-string heart• Increased pulmonary
vasculature, depending on size shunt
• RVH
Treatment for D-TGA1. Prostaglandin E2. Surgicala. Atrial septostomy if no VSD (Rashkind, Blalock - Hanlon etc.)b. Anatomical correction (Jatene’s operation)
TGA
TAPVR types
1. Supracardiac emptying in the left verticalvein (most common type 80-90%) which subsequently drains into the SVC
2. Cardiac emptying into the coronary sinusor right atrium
3.Infradiaphragmatic emptying into verticalvein that descends through diaphragm intoportal vein and or IVC
TAPVR• Incidence• Age at
presentation• Clinical findings
• EKG• Radiology
• 2%• Newborn• Rapid cyanosis in the
infra-diaphragmatic type• Non-obstructive similar to
ASD plus mild cyanosis• RVH• “Snowman” configuration• Diffuse reticular opacities• Looks like HMD without
air bronchograms!
TAPVR
• Associations
• Treatment
• Polysplenia• Asplenia (3/4 patients also
TAPVR)• Surgical ligation of anomalous
vein
Total anomalous venous return
Acyanotic CHD with Increased Pulmonary Blood Flow (left to right shunt lesions)
1. ASD2. VSD3. PDA
ASD• Incidence• Types
• Age presentation
• Clinical
• Auscultation• EKG• Treatment
• 10% CHD• Ostium secundum (most
common)• Sinus venosus defect• Ostium primum (AV canal)• Varies• Mostly asymptomatic• Slender body build• Widely split and fixed S2! +
SEM• RAD and RVH• No SBE coverage needed!• Surgery for large shunts
ASD
VSD• Incidence
• Types
• Age presentation
• Most common CHD (20%)• Coexists with other lesions in
5%• Membranous (80%)• Muscular (10%)• Large - at age 2-3 months
with congestive failure• Small to moderate - usually
asymptomatic
VSD
• Clinical
• Auscultation
• Congestive heart failure if large
• Poor weight gain• Systolic thrill with
holosystolic murmur at LLSB• Diastolic murmur with large
shunts and loud P2 with pulmonary hypertension
• Diastolic rumble at apex indicates CHF
VSD• EKG
• Radiology
• Associations
• Complications
• 1. normal if small VSD• 2. LAE-LVH if moderate• 3. LAE-BVH if large• 4. RVH-PVOD• Increased vascularity with larger
shunts and enlargement cardiac size
• Holt-Oram syndrome, Down’s, Trisomy 13, Trisomy 18
• Eisenmenger’s Syndrome (shunt reverses to rightleft)
Treatment VSD
1. Spontaneous closure of small VSD’s2. Medical therapy (diuretics, digitalis)3. Pulmonary artery banding4. Surgical placement of patch over VSD5. SBE prophylaxis
VSD
PDAClinical Premature infants - Congestive
heart failureTerm infants - usually asymp murmur
Pulm. Vasculature IncreasedRadiology Dependent on size of shunt
Left atrial enlargement often presentMassive bulge at left upper mediastinum inlarge shunts
Treatment Premature infants - IndomethacinLigation and division of the ductusProstaglandin E infusion maintains ductalpatency when needed
PDA
Acyanotic CHD with PulmonaryVenous Congestion or NormalBlood Flow (Pressure Load)
1. Coarctation Aorta2. Aortic Stenosis3. Hypoplastic Left Heart4. Pulmonary Stenosis
Coarctation of the AortaIncidence: 5% of CHDClinical: Preductal or infantile type presents in
young child with CHF and LE pulsesAdult type presents with hypertension and difference in arm and leg pulses
Radiology: Rib notching - starts age 6-8Associations: Often isolated
Turner’s, NF, William’s, Sturge-WeberTreatment: Primary repair
Prostaglandin E to infants
Rib notching
Aortic Stenosis
Clinical: Most asymptomaticAnginaSyncope - may be fatal
Pulm. Vasc.: NormalAssociations: Williams’ SyndromeTreatment: Medical
SurgicalNo high impact sports
Hypoplastic Left HeartIncidence: 8% of all CHD, most common cause for
early cardiac deathAge at present.: Immediately at birth or first weeksClinical: 1st presentation is usually not cyanosis,
but signs of shockPulm. Vasc.: IncreasedRadiology: Large cardiac silhouetteTreatment: Prostaglandin E
Norwood procedure (high mortality)
Mitral Valve Prolapse FactsMore common in girls May be inherited as autosomal dominant trait withvariable expression Common in Marfan’s Dominant signs are ausculatory; late systolicapical murmur preceded by a click PVC’s may be a complication Non progressive in children Endocarditis prophylaxis indicated only insubstantiated cases, usually those with mitralinsufficiencies
Blalock-Taussig shunt. The subclavian artery is transected
and anastomosed in a end-to-side fashion to the ipsilateral
pulmonary artery. Usually the subclavian artery opposite
to the arch is used.
The Modified Blalock-Taussig shunt now uses a Goretex
graft (green) to connect the subclavian artery to the
pulmonary artery. This preserves the subclavian artery.
Potts shunt is where a side-to-side anastomosis is made between the
descending aorta and the pulmonary artery.
The Waterston-Cooley shunt is similar to the Potts shunt. A side to
side anastomosis or window is created between the pulmonary artery
and the ascending aorta. The difference is that it is the ascending
aorta (Waterston-Cooley) rather than the descending aorta which is
anastomosed to the pulmonary artery (Potts).
Pearls• Bounding pulses; think PDA or AV fistula.• Widely fixed split second heart tone; think
ASD.• No pre- and postductal saturation differences
– when there is total mixing of deoxygenated venous blood with oxygenated pulmonary blood in the heart; such as -total anomalous pulmonary venous return
-truncus arteriosus
Pearls
• Pre- and post-ductal saturation differences
– post-ductal saturation is higher in TGA– all other congenital heart anomalies without
total mixing in the heart have a lower post-ductal saturation