Inherited disorders and associated CV developmental defects

sws42792's version from 2015-05-31 21:44


Question Answer
Down syndromeEndocardial cushion defects (eg, ostium primum atrial septal defects, regurgitant atrioventricular valves), VSD
DiGeorge syndromeConotruncal malformations: tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, VSD
Friedriech ataxiaHyertrophic cardiomyopathy
Kartagener syndromeSitus inversus
Marfan syndromeCystic medial necrosis (eg, aortic dissection & aneurysm), mitral valve prolapse, aortic regurgitation
Tuberous sclerosisValvular obstruction due to cardiac rhabdomyomas
Turner syndromeAortic coarctation, bicuspid aortic valve
Alcohol exposure in utero (fetal alcohol syndrome)VSD, PDA, ASD, tetralogy of Fallot
Congenital rubellaSeptal defects, PDA, pulmonary artery stenosis
Williams syndromeSupravalvular aortic stenosis
Infant of diabetic motherTransposition of the great vessels
Prenatal lithium exposureEbstein anomaly (atrialization of RV --> large RA, small RV)
Loeffler syndromeRestrictive cardiomyopathy caused by endomyocardial fibrosis with eosinophilic infiltrate
Duchenne muscular dystrophyDilated cardiomyopathy (common cause of death)