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Arrhythmogenic or Dilated or Desmoplakin Cardiomyopathy? A Challenging Case Managed by Our Multidisciplinary Cardiogenetic Team

Overview
Journal Indian Pacing Electrophysiol J
Date 2024 Jul 11
PMID 38992493
Authors
Priya Chockalingam
Deep Chandh Raja
C Sundar
R Anantharaman
Affiliations
Soon will be listed here.
Abstract

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.

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