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Bicuspid aortic valve

Orpha number ORPHA1244
Synonym(s) -
Prevalence >1 / 1000
Inheritance Not applicable
Autosomal dominant
Age of onset -
  • Q23.1
  • C0149630
MeSH -
  • 10004552


Bicuspid aortic valve (BAV) describes a valve with two leaflets, when the usual arrangement is for it to have three leaflets; these are termed the right and left coronary leaflets and the non-coronary leaflet. It can be detected using cross-sectional and Doppler echocardiography. Post mortem and echocardiographic studies give a prevalence of 0.5% to 2.0% with an excess of males. Therefore it is not a rare condition. Bicuspid aortic valves are often associated with other cardiovascular malformations, coarctation of the aorta and aortic dilatation. The aorta is often dilated even with a normal functioning valve. Biscuspid aortic valve is associated with a number of complications; aortic stenosis, aortic regurgitation, aortic dissection, and infective endocarditis. Individuals with BAV should be carefully monitored for evidence of aortic dilatation and valvular dysfunction. There are reports of the familial nature of BAV that are consistent with autosomal dominant inheritance with reduced penetrance especially in females. First-degree relatives should be offered screening for BAV and the complications.

Expert reviewer(s)

  • Dr Christopher BENNETT

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Detailed information

Review article
  • EN (2005,pdf)
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