{"title":"致心律失常型心肌病、扩张型心肌病还是脱髓鞘型心肌病?我们的多学科心脏遗传学团队处理的一个具有挑战性的病例。","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":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":null,\"pages\":null},\"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}","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
摘要
心律失常性心肌病(ACM)以心肌纤维或纤维脂肪浸润为特征,以心律失常为主要表现形式,是导致年轻人和运动员心脏性猝死的遗传因素之一。我们报告了一例严重的双心室 ACM 病例,患者是一名中年男子,有心肌病相关的年轻死亡家族史。经鉴定,该原发性患者携带 DES 和 DOLK 基因的两个新型突变,并通过多学科团队的方法进行了综合治疗。该报告进一步说明,发展中国家需要专门的心血管遗传学项目以及特定人群的遗传学数据库。
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 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.