familial bicuspid aortic valve
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).
MONDO:0003803
aortic valve disorder
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
MONDO:0100547
cardiogenetic disease
is_a
AOVD1
narrow
aortic valve disease 1
narrow
aortic valve disease type 1
narrow
familial BAV
exact