Header

UZH-Logo

Maintenance Infos

An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease


Balistreri, Carmela Rita; Forte, Maurizio; Greco, Ernesto; Paneni, Francesco; Cavarretta, Elena; Frati, Giacomo; Sciarretta, Sebastiano (2019). An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease. Journal of Molecular and Cellular Cardiology, 132:146-153.

Abstract

Bicuspid aortic valve (BAV) is a common congenital heart malformation frequently associated with the development of aortic valve diseases and severe aortopathy, such as aortic dilatation, aneurysm and dissection. To date, different genetic loci have been identified in syndromic and non- syndromic forms of BAV. Among these, genes involved in the regulation of extracellular matrix remodelling, epithelial to mesenchymal transition and nitric oxide metabolism appear to be the main contributors to BAV pathogenesis. However, no- single gene model explains BAV inheritance, suggesting that more factors are simultaneously involved. In this regard, characteristic epigenetic and immunological profiles have been documented to contradistinguish BAV individuals. In this review, we provide a comprehensive overview addressing molecular mechanisms involved in BAV development and progression.

Abstract

Bicuspid aortic valve (BAV) is a common congenital heart malformation frequently associated with the development of aortic valve diseases and severe aortopathy, such as aortic dilatation, aneurysm and dissection. To date, different genetic loci have been identified in syndromic and non- syndromic forms of BAV. Among these, genes involved in the regulation of extracellular matrix remodelling, epithelial to mesenchymal transition and nitric oxide metabolism appear to be the main contributors to BAV pathogenesis. However, no- single gene model explains BAV inheritance, suggesting that more factors are simultaneously involved. In this regard, characteristic epigenetic and immunological profiles have been documented to contradistinguish BAV individuals. In this review, we provide a comprehensive overview addressing molecular mechanisms involved in BAV development and progression.

Statistics

Citations

Dimensions.ai Metrics
13 citations in Web of Science®
12 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 21 Jan 2020
0 downloads since 12 months

Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Center for Molecular Cardiology
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > Molecular Biology
Health Sciences > Cardiology and Cardiovascular Medicine
Language:English
Date:July 2019
Deposited On:21 Jan 2020 12:34
Last Modified:29 Jul 2020 12:53
Publisher:Elsevier
ISSN:0022-2828
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/j.yjmcc.2019.05.013
PubMed ID:31103478

Download

Closed Access: Download allowed only for UZH members