Genetics in bicuspid aortic valve disease: Where are we?

Katia Bravo-Jaimes; Siddharth K Prakash

doi:10.1016/j.pcad.2020.06.005

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.

Authors

Katia Bravo-Jaimes¹, Siddharth K Prakash²

Affiliations

¹ Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
² Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address: Siddharth.K.Prakash@uth.tmc.edu.

Abstract

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

Grants and funding

R01 HL137028/HL/NHLBI NIH HHS/United States