{"title":"Arrhythmogenic or dilated or desmoplakin cardiomyopathy? A challenging case managed by our multidisciplinary cardiogenetic team","authors":"","doi":"10.1016/j.ipej.2024.07.002","DOIUrl":null,"url":null,"abstract":"<div><div>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 <em>DES</em> and <em>DOLK</em> 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.</div></div>","PeriodicalId":35900,"journal":{"name":"Indian Pacing and Electrophysiology Journal","volume":"24 5","pages":"Pages 298-302"},"PeriodicalIF":0.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Pacing and Electrophysiology Journal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0972629224000810","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍:
Indian Pacing and Electrophysiology Journal is a peer reviewed online journal devoted to cardiac pacing and electrophysiology. Editorial Advisory Board includes eminent personalities in the field of cardiac pacing and electrophysiology from Asia, Australia, Europe and North America.