Paul Matthias, Schulze-Bahr Eric
Department of Cardiology I - Coronary and peripheral vascular disease, heart failure - Division of Cardiovascular Medicine, University Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.
Institute for Genetics of Heart Diseases (IfGH), Division of Cardiovascular Medicine, University Hospital Münster, Münster, Germany.
Herz. 2020 May;45(3):243-251. doi: 10.1007/s00059-020-04907-1.
Arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited heart muscle disease, is characterized by a progressive replacement of viable, in its classic form predominantly right ventricular myocardium by fibro-fatty tissue. These pathological alterations may provide the substrate for the occurrence of life-threatening ventricular tachyarrhythmias, heart failure, and sudden cardiac death. The clinical course in this young patient population is highly variable, diagnostic algorithms complex, and individualized treatment strategies yet to be refined. Molecular genetic analyses have revealed both heterozygous and compound mutations in genes encoding for desmosomal proteins that are an integral part of the intercellular architecture. However, its diagnostic and prognostic impact remains to be elucidated. Over time, other genetic (i.e., non-desmosomal) and non-genetic causes (phenocopies) have been identified, and biventricular and left dominant manifestations (ALVC) are known. Based on a qualitative scoring system, initially published in 1994, diagnostic criteria were revised and substantiated by quantitative criteria in 2010 followed by a critical appraisal 9 years later. In 1995, ARVC was included in the classification of cardiomyopathies of the World Health Organization but was recently proposed to be subsumed in a broader concept termed "arrhythmogenic cardiomyopathy" (AC). This review provides an update on the clinical diagnosis and differential diagnoses of ARVC as well as our current understanding of the underlying pathogenesis, and it sheds light on new efforts in risk stratification.
致心律失常性右室心肌病（ARVC）是一种遗传性心肌疾病，其典型特征是存活的心肌组织（在经典形式中主要为右室心肌）逐渐被纤维脂肪组织替代。这些病理改变可能为危及生命的室性快速心律失常、心力衰竭和心源性猝死的发生提供基础。在这个年轻患者群体中，临床病程高度可变，诊断算法复杂，个体化治疗策略尚待完善。分子遗传学分析揭示了编码桥粒蛋白的基因中的杂合突变和复合突变，这些蛋白是细胞间结构的重要组成部分。然而，其诊断和预后影响仍有待阐明。随着时间的推移，已发现其他遗传（即非桥粒相关）和非遗传原因（表型模拟），并且已知有双心室和左心室优势型表现（ALVC）。基于最初于1994年发表的定性评分系统，2010年通过定量标准对诊断标准进行了修订和充实，9年后进行了批判性评估。1995年，ARVC被纳入世界卫生组织心肌病分类，但最近有人提议将其归入一个更广泛的概念，即“致心律失常性心肌病”（AC）。本综述提供了ARVC临床诊断和鉴别诊断的最新情况，以及我们目前对潜在发病机制的理解，并阐明了风险分层方面的新进展。
