Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.
Congenital bicuspid aortic valve (BAV) is one of the most frequent heart defects detected by echocardiographic investigation and necropsy (0.9-1% of the general population), but only 16 families with familial congenital BAV have been described up to now. We report on a family in which 4 members of two generations (2 brothers, 1 sister, and her son) are affected with BAV. The BAV mode of inheritance is discussed.
Clementi
M
M
Dipartimento di Pediatria, University of Padua, Italy.
Notari
L
L
Borghi
A
A
Tenconi
R
R
D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities*; D002648:Child; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree