Indian Pacing and Electrophysiology Journal (Sep 2024)

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

  • Priya Chockalingam,
  • Deep Chandh Raja,
  • C. Sundar,
  • R. Anantharaman

Journal volume & issue
Vol. 24, no. 5
pp. 298 – 302

Abstract

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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.