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

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 i...

Full description

Saved in:
Bibliographic Details
Published in:Indian pacing and electrophysiology journal 2024-09, Vol.24 (5), p.298-302
Main Authors: Chockalingam, Priya, Raja, Deep Chandh, Sundar, C., Anantharaman, R.
Format: Article
Language:English
Subjects:
Case Report
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0972-6292
0972-6292
DOI:10.1016/j.ipej.2024.07.002