CC BY 4.0 · Aorta (Stamford) 2021; 09(04): 139-146
DOI: 10.1055/s-0041-1730294
State-of-the-Art Review

Bicuspid Aortic Valve: Genetic and Clinical Insights

1  Department of Cardiology, Hadassah Medical Center, Jerusalem, Israel
2  Faculty of Medicine, The Hebrew University, Jerusalem, Israel
3  Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel
,
4  Oncogenetics laboratory, Centre George François Leclerc, Dijon, France
,
Guillaume Goudot
5  Cardiovascular Department, Georges Pompidou European Hospital, Paris, France
,
2  Faculty of Medicine, The Hebrew University, Jerusalem, Israel
3  Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel
,
Shoshana Shpitzen
1  Department of Cardiology, Hadassah Medical Center, Jerusalem, Israel
,
Emmanuel Messas
5  Cardiovascular Department, Georges Pompidou European Hospital, Paris, France
,
Dan Gilon
1  Department of Cardiology, Hadassah Medical Center, Jerusalem, Israel
2  Faculty of Medicine, The Hebrew University, Jerusalem, Israel
,
Ronen Durst
1  Department of Cardiology, Hadassah Medical Center, Jerusalem, Israel
2  Faculty of Medicine, The Hebrew University, Jerusalem, Israel
› Author Affiliations
Funding The study was supported by the Hadassah-Franch Association and the Center for Interdisciplinary Data Science Research of the Hebrew University.

Abstract

Bicuspid aortic valve (BAV) is the most common valvular congenital heart disease, with a prevalence of 0.5 to 2% in the general population. Patients with BAV are at risk for developing cardiovascular complications, some of which are life-threatening. BAV has a wide spectrum of clinical presentations, ranging from silent malformation to severe and even fatal cardiac events. Despite the significant burden on both the patients and the health systems, data are limited regarding pathophysiology, risk factors, and genetics. Family studies indicate that BAV is highly heritable, with autosomal dominant inheritance, incomplete penetrance, variable expressivity, and male predominance. Owing to its complex genetic model, including high genetic heterogenicity, only a few genes were identified in association with BAV, while the majority of BAV genetics remains obscure. Here, we review the different forms of BAV and the current data regarding its genetics. Given the clear heritably of BAV with the potential high impact on clinical outcome, the clinical value and cost effectiveness of cascade screening are discussed.



Publication History

Received: 22 April 2020

Accepted: 25 February 2021

Publication Date:
03 December 2021 (online)

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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