Bicuspid Aortic Valve: Genetic and Clinical Insights.
Journal
Aorta (Stamford, Conn.)
ISSN: 2325-4637
Titre abrégé: Aorta (Stamford)
Pays: Germany
ID NLM: 101655549
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
entrez:
3
12
2021
pubmed:
4
12
2021
medline:
4
12
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34861740
doi: 10.1055/s-0041-1730294
pmc: PMC8642070
doi:
Types de publication
Journal Article
Langues
eng
Pagination
139-146Informations de copyright
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/).
Déclaration de conflit d'intérêts
The authors declare no conflict of interest related to this article.
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