Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance
M Clementi, L Notari, A Borghi… - American journal of …, 1996 - Wiley Online Library
M Clementi, L Notari, A Borghi, R Tenconi
American journal of medical genetics, 1996•Wiley Online LibraryCongenital 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.© 1996 Wiley‐Liss, Inc.
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.© 1996 Wiley‐Liss, Inc.
Abstract
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. © 1996 Wiley‐Liss, Inc.
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