Heterozygous desmoplakin (

arrhythmias genetics heart failure pacing and electrophysiology

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
21 Feb 2024
Historique:
medline: 22 2 2024
pubmed: 22 2 2024
entrez: 21 2 2024
Statut: epublish

Résumé

Arrhythmogenic cardiomyopathy is a non-ischaemic cardiomyopathy characterised by the presence of myocardial dysfunction and inherited conduction disease that predisposes patients to malignant ventricular arrhythmias and sudden cardiac death. There is a growing awareness of the diverse phenotypic presentation of arrhythmogenic cardiomyopathy, which may demonstrate preferential involvement of the left, right or both ventricles. A subset of arrhythmogenic cardiomyopathy may be due to mutations of desmosomes, intercellular junctions of the myocardium that promote structural and electrical integrity. Mutations of desmoplakin, encoded by the

Identifiants

pubmed: 38383124
pii: 17/2/e259308
doi: 10.1136/bcr-2023-259308
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Akshay Mathavan (A)

Internal Medicine, University of Florida, Gainesville, Florida, USA.

Urszula Krekora (U)

College of Medicine, University of Central Florida, Orlando, Florida, USA.

Miguel Belaunzaran Dominguez (M)

Internal Medicine, University of Florida, Gainesville, Florida, USA.

Akash Mathavan (A)

Internal Medicine, University of Florida, Gainesville, Florida, USA amathavan2496@ufl.edu.

Classifications MeSH