Familial bicuspid aortic valve
Synonyms: Familial BAV
Familial bicuspid aortic valve is 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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Familial bicuspid aortic valve?
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