Familial bicuspid aortic valve
MONDO:0007194A 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
76 clinical trials for this condition and its sub-types, 6 tagged with Familial bicuspid aortic valve itself.
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Sub-types of Familial bicuspid aortic valve
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Aortic valve disease 1 16 trials
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Aortic valve disease 2 12 trials
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Aortic valve disease 3 0 trials
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11,000 volunteers help unlock genetic secrets of heart valve disease
Knowledge-focused OngoingThis study is looking for the genetic causes of bicuspid aortic valve disease, a common heart condition where the aortic valve has two flaps instead of three. Researchers will analyze DNA from 11,000 participants, including patients and their relatives, to find gene changes linke…
Sponsor: Boston University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 UTC
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6,464 patients join global hunt for bicuspid valve genes
Knowledge-focused OngoingThis study gathers genetic and health information from over 6,400 people with bicuspid aortic valve, a common heart defect. Researchers aim to find the genes responsible for the condition and why some patients later develop serious aortic disease. No treatment is given; the goal …
Sponsor: Boston University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 UTC
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Scientists hunt for hidden genes behind aortic aneurysms
Knowledge-focused OngoingThis study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC