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Case Reports
. 1996 Apr 24;62(4):336-8.
doi: 10.1002/(SICI)1096-8628(19960424)62:4<336::AID-AJMG2>3.0.CO;2-P.

Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance

M Clementi  1 , L Notari, A Borghi, R Tenconi
Affiliations
Case Reports

Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance

M Clementi et al. Am J Med Genet. .

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.

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