Arrhythmogenic Right Ventricular Cardiomyopathy: The Role of Genetics in Diagnosis, Management, and Screening.
Arrhythmia
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
Genetics
Journal
Cardiology research
ISSN: 1923-2829
Titre abrégé: Cardiol Res
Pays: Canada
ID NLM: 101557543
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
received:
30
04
2022
accepted:
02
07
2022
entrez:
21
9
2022
pubmed:
22
9
2022
medline:
22
9
2022
Statut:
ppublish
Résumé
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a predominantly autosomal dominant genetic condition in which fibrous and fatty tissue infiltrate and replace healthy myocardial tissue. This uncommon yet debilitating condition can cause ventricular arrhythmias, cardiac failure, and sudden cardiac death. Management focuses primarily on prevention of syndrome sequelae in order to prevent morbidity and mortality. Genetic testing and screening in affected families, although utilized clinically, has not yet been incorporated in guidelines due to lack of larger studies and data. We aim herein to identify causative gene mutations, present advancements in diagnosis and management, and describe the role of genetic screening and counseling in patients with ARVC. With the advancement of genetic testing and therapy, diseases such as ARVC may become more accurately diagnosed and more effectively managed, ultimately significantly reducing morbidity and mortality.
Identifiants
pubmed: 36128418
doi: 10.14740/cr1373
pmc: PMC9451588
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
177-184Informations de copyright
Copyright 2022, Odak et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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