Mattesi Giulia, Cipriani Alberto, Bauce Barbara, Rigato Ilaria, Zorzi Alessandro, Corrado Domenico
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, Italy.
J Clin Med. 2021 May 20;10(10):2212. doi: 10.3390/jcm10102212.
Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by loss of ventricular myocardium and fibrofatty replacement, which predisposes to scar-related ventricular arrhythmias and sudden cardiac death, particularly in the young and athletes. Although in its original description the disease was characterized by an exclusive or at least predominant right ventricle (RV) involvement, it has been demonstrated that the fibrofatty scar can also localize in the left ventricle (LV), with the LV lesion that can equalize or even overcome that of the RV. While the right-dominant form is typically associated with mutations in genes encoding for desmosomal proteins, other (non-desmosomal) mutations have been showed to cause the biventricular and left-dominant variants. This has led to a critical evaluation of the 2010 International Task Force criteria, which exclusively addressed the right phenotypic manifestations of ACM. An International Expert consensus document has been recently developed to provide upgraded criteria ("the Padua Criteria") for the diagnosis of the whole spectrum of ACM phenotypes, particularly left-dominant forms, highlighting the use of cardiac magnetic resonance. This review aims to offer an overview of the current knowledge on the genetic basis, the phenotypic expressions, and the diagnosis of left-sided variants, both biventricular and left-dominant, of ACM.
致心律失常性心肌病（ACM）是一种遗传性心肌疾病，其特征为心室心肌丧失和纤维脂肪替代，这易引发与瘢痕相关的室性心律失常和心源性猝死，尤其是在年轻人和运动员中。尽管在最初的描述中，该疾病的特征是仅累及或至少主要累及右心室（RV），但现已证明纤维脂肪瘢痕也可定位于左心室（LV），且左心室病变可能与右心室病变相当甚至超过右心室病变。虽然右心室优势型通常与编码桥粒蛋白的基因突变有关，但其他（非桥粒）突变已被证明可导致双心室和左心室优势型变异。这引发了对2010年国际工作组标准的批判性评估，该标准仅涉及ACM的右表型表现。最近制定了一份国际专家共识文件，以提供用于诊断ACM全谱表型，特别是左心室优势型的升级标准（“帕多瓦标准”），强调了心脏磁共振成像的应用。本综述旨在概述目前关于ACM双心室和左心室优势型左侧变异的遗传基础、表型表达和诊断的知识。
