"复发性心肌炎年轻患者的心律失常性心肌病诊断:基因检测的重要性"。

IF 2.3 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS
Juana Perez Morales , Ana Spaccavento , Marianna Guerchicoff , Lucrecia Burgos , Juan Pablo Costabel , Eugenio Cingolani , Alberto Alves de Lima
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引用次数: 0

摘要

心肌病的基因检测已经成为一个关键的工具,在诊断条件不同,往往重叠的临床表现。心律失常性心肌病(ACM)是一种危及生命的疾病,与危及生命的心律失常和心源性猝死(SCD)相关,约5000人中有1人受其影响。虽然ACM通常表现为右侧或左侧心力衰竭,室性心律失常或SCD,但它也可以表现为急性或复发性心肌炎。这些炎症发作,被称为ACM的“热期”,不太常见,但在某些临床背景下高度相关。我们提出的情况下,20岁的男性反复发作的急性心肌炎,证实心肌炎症的证据在心脏磁共振成像(cMRI)。基因检测显示与ACM相关的desmoplakin (DSP)基因的致病性突变,引起人们怀疑反复发作的心肌炎代表了这种遗传疾病的“热期”。总之,该病例强调了在复发性心肌炎患者中考虑ACM的重要性,并强调了基因检测在揭示潜在病因中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
“Diagnosis of Arrhythmogenic Cardiomyopathy in a Young Patient With Recurrent Myocarditis: The Importance of Genetic Testing”
Genetic testing for cardiomyopathies has become a pivotal tool in diagnosing conditions with diverse and often overlapping clinical presentations. Arrhythmogenic cardiomyopathy (ACM), which affects approximately 1 in 5000 individuals, is a life-threatening condition associated with life-threatening arrhythmias and sudden cardiac death (SCD). While ACM typically presents with right- or left-sided heart failure, ventricular arrhythmias, or SCD, it can also manifest as acute or recurrent myocarditis. These inflammatory episodes, known as the "hot phase" of ACM, are less common but highly relevant in certain clinical contexts. We present the case of a 20-year-old male with recurrent episodes of acute myocarditis, confirmed by evidence of myocardial inflammation on cardiac magnetic resonance imaging (cMRI). Genetic testing revealed a pathogenic mutation in the desmoplakin (DSP) gene associated with ACM, raising the suspicion that the recurrent myocarditis episodes represent a "hot phase" of this inherited condition. In conclusion, this case underscores the importance of considering ACM in patients with recurrent myocarditis and highlights the role of genetic testing in uncovering underlying etiologies.
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来源期刊
American Journal of Cardiology
American Journal of Cardiology 医学-心血管系统
CiteScore
4.00
自引率
3.60%
发文量
698
审稿时长
33 days
期刊介绍: Published 24 times a year, The American Journal of Cardiology® is an independent journal designed for cardiovascular disease specialists and internists with a subspecialty in cardiology throughout the world. AJC is an independent, scientific, peer-reviewed journal of original articles that focus on the practical, clinical approach to the diagnosis and treatment of cardiovascular disease. AJC has one of the fastest acceptance to publication times in Cardiology. Features report on systemic hypertension, methodology, drugs, pacing, arrhythmia, preventive cardiology, congestive heart failure, valvular heart disease, congenital heart disease, and cardiomyopathy. Also included are editorials, readers'' comments, and symposia.
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