An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease.
Aneurysm
Aortic dilatation
Aortic stenosis
Aortopathy
Bicuspid aortic valve
NOTCH1
Journal
Journal of molecular and cellular cardiology
ISSN: 1095-8584
Titre abrégé: J Mol Cell Cardiol
Pays: England
ID NLM: 0262322
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
26
04
2019
accepted:
14
05
2019
pubmed:
20
5
2019
medline:
2
7
2020
entrez:
20
5
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31103478
pii: S0022-2828(19)30084-7
doi: 10.1016/j.yjmcc.2019.05.013
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
146-153Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.