Familial bicuspid aortic valve

MONDO:0007194

A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Also known as: familial BAV, AOVD1, aortic valve disease 1, aortic valve disease type 1

75 clinical trials for this condition and its sub-types.

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