Genetics in bicuspid aortic valve disease: Where are we?

Prog Cardiovasc Dis. 2020 Jul-Aug;63(4):398-406. doi: 10.1016/j.pcad.2020.06.005. Epub 2020 Jun 27.


Bicuspid aortic valve (BAV) is the most common congenital heart defect, found in up to 2% of the population and associated with a 30% lifetime risk of complications. BAV is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity due to a complex genetic architecture that involves many interacting genes. In this review, we highlight the current state of knowledge about BAV genetics, principles and methods for BAV gene discovery, clinical applications of BAV genetics, and important future directions.

Keywords: Aortic aneurysm; Bicuspid aortic valve; Congenital heart disease; Genetics.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Aortic Valve / abnormalities*
  • Bicuspid Aortic Valve Disease
  • Heart Valve Diseases / congenital*
  • Heart Valve Diseases / diagnosis
  • Heart Valve Diseases / genetics*
  • Humans