Arrhythmogenic or dilated or desmoplakin cardiomyopathy? A challenging case managed by our multidisciplinary cardiogenetic team.

Autor:	Chockalingam P; Centre for Inherited Heart Disease, Department of Cardiology, Kauvery Hospital, Chennai, India. Electronic address: priyachockalingam@cardiacwellnessinstitute.com., Raja DC; Cardiac Electrophysiology, Department of Cardiology, Kauvery Hospital, Chennai, India., Sundar C; Interventional Cardiology, Department of Cardiology, Kauvery Hospital, Chennai, India., Anantharaman R; Centre for Inherited Heart Disease, Department of Cardiology, Kauvery Hospital, Chennai, India; Interventional Cardiology, Department of Cardiology, Kauvery Hospital, Chennai, India.
Jazyk:	angličtina
Zdroj:	Indian pacing and electrophysiology journal [Indian Pacing Electrophysiol J] 2024 Sep-Oct; Vol. 24 (5), pp. 298-302. Date of Electronic Publication: 2024 Jul 09.
DOI:	10.1016/j.ipej.2024.07.002
Abstrakt:	Arrhythmogenic cardiomyopathy (ACM), characterized by fibro or fibrofatty infiltration of the myocardium with a predominant arrhythmic presentation, is a genetically mediated cause of sudden cardiac death in the young and athletic individuals. We report a case of a severe form of biventricular ACM in a middle-aged man with a family history of cardiomyopathy-related young death. The proband was identified to harbor two novel mutations in the DES and DOLK genes and was managed comprehensively with a multidisciplinary team approach. This report reinforces the need for a dedicated cardiovascular genetics program as well as a population-specific genetic database in developing countries. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 Indian Heart Rhythm Society. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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