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Syndromes Associated with Congenital Heart Disease
DiGeorge Syndrome
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Interrupted aortic arch |
Down’s syndrome
(Trisomy 21) |
Endocardial cushion defect (25%)
Membranous VSD
ASD–ostium primum
AV communis
Cleft mitral valve
PDA
11 pairs of ribs
Hypersegmented manubrium |
Ellis-Van-Creveld
(50% CHD)
|
Single atrium
Polydactyly |
Holt-Oram syndrome
(50% CHD) |
ASD
VSD
Pulmonic stenosis
Radial dysplasia |
Hurler syndrome |
Cardiomyopathy
|
Ivemark syndrome |
Asplenia
Complex cardiac abnormalities |
Marfan’s syndrome |
Aortic sinus dilatation
Aortic aneurysm
Aortic insufficiency
Pulmonary aneurysm |
Noonan syndrome |
Pulmonic stenosis
ASD
Hypertrophic cardiomyopathy |
Postrubella syndrome |
Peripheral pulmonic stenoses
Valvular pulmonic stenosis
Supravalvular aortic stenosis
PDA
Deafness
Cataracts |
Turner syndrome |
Coarctation of the aorta (in 15%)
Bicuspid aortic valve |
Trisomy 16-18 |
VSD
PDA
Double outlet right ventricle |
Trisomy 13-15 |
VSD
Tetralogy of Fallot
Double outlet right ventricle |
William syndrome
(Idiopathic hypercalcemia) |
Supravalvular aortic stenosis (33%)
ASD
VSD
Valvular and peripheral pulmonary artery stenosis
Aortic hypoplasia
Stenoses of more peripheral arteries |
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