Genetics and pathophysiology of mitral valve prolapse.
Filamin A
animal models
dachsous
genetic
mitral valve prolapse
myxomatous disease
pathophysiology
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2023
2023
Historique:
received:
23
10
2022
accepted:
23
01
2023
entrez:
6
3
2023
pubmed:
7
3
2023
medline:
7
3
2023
Statut:
epublish
Résumé
Mitral valve prolapse (MVP) is a common condition affecting 2-3% of the general population, and the most complex form of valve pathology, with a complication rate up to 10-15% per year in advanced stages. Complications include mitral regurgitation which can lead to heart failure and atrial fibrillation, but also life-threatening ventricular arrhythmia and cardiovascular death. Sudden death has been recently brought to the forefront of MVP disease, increasing the complexity of management and suggesting that MVP condition is not properly understood. MVP can occur as part of syndromic conditions such as Marfan syndrome, but the most common form is non-syndromic, isolated or familial. Although a specific X-linked form of MVP was initially identified, autosomal dominant inheritance appears to be the primary mode of transmission. MVP can be stratified into myxomatous degeneration (Barlow), fibroelastic deficiency, and Filamin A-related MVP. While FED is still considered a degenerative disease associated with aging, myxomatous MVP and FlnA-MVP are recognized as familial pathologies. Deciphering genetic defects associated to MVP is still a work in progress; although
Identifiants
pubmed: 36873395
doi: 10.3389/fcvm.2023.1077788
pmc: PMC9978496
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1077788Informations de copyright
Copyright © 2023 Delwarde, Capoulade, Mérot, Le Scouarnec, Bouatia-Naji, Yu, Huttin, Selton-Suty, Sellal, Piriou, Schott, Dina and Le Tourneau.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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