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
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.