Aortic valve disease

Definition:

Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.

References:

[1]. Ashleigh A Richards, et al. Genetics of congenital heart disease. Curr Cardiol Rev. 2010 May;6(2):91-7. [Content Brief]

[2]. Huay L Tan, et al. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat. 2012 Apr;33(4):720-7. [Content Brief]

[3]. Russell A Gould, et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet. 2019 Jan;51(1):42-50. [Content Brief]

[4]. Samuel C Siu, et al. Bicuspid aortic valve disease. J Am Coll Cardiol. 2010 Jun 22;55(25):2789-800. [Content Brief]

[5]. Shi-Min Yuan, et al. The bicuspid aortic valve and related disorders. Sao Paulo Med J. 2010;128(5):296-301. [Content Brief]

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