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Syndromes Associated with Congenital Heart Disease



DiGeorge Syndrome

 

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