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Familial bicuspid aortic valve

Disease definition

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).

ORPHA:402075

  • Synonym(s):
    • Familial BAV
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q23.1
  • OMIM: 109730  614823
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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