Vimalanathan Anita Kiran, Ehler Elisabeth, Gehmlich Katja
Randall Centre for Cell and Molecular Biophysics, School of Basic and Medical Biosciences, London, UK.
School of Cardiovascular Medicine and Sciences, British Heart Foundation Research Excellence Centre, King's College London, London, UK.
Biophys Rev. 2018 Aug;10(4):973-982. doi: 10.1007/s12551-018-0437-0. Epub 2018 Jul 11.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a 'disease of the desmosome' based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transduction pathways. Mutated desmosomal proteins are thought to cause detachment of cardiac myocytes by the loss of cellular adhesions and also affect signalling pathways, leading to cell death and substitution by fibrofatty adipocytic tissue. However, mutations in desmosomal proteins are not the sole cause for ARVC as mutations in non-desmosomal genes were also implicated in its pathogenesis. This review will consider the pathology, genetic basis and mechanisms of pathogenesis for ARVC.
致心律失常性右室心肌病（ARVC）是一种遗传性心脏病，与心脏性猝死的高风险相关。基于在许多病例中，它是由编码心肌细胞间特殊细胞连接（闰盘）处桥粒蛋白的基因突变所引起这一事实，ARVC被称为“桥粒疾病”。桥粒维持心室心肌的结构完整性，并且也参与信号转导途径。突变的桥粒蛋白被认为通过细胞黏附丧失导致心肌细胞脱离，并且还影响信号转导途径，导致细胞死亡并被纤维脂肪细胞组织替代。然而，桥粒蛋白突变并非ARVC的唯一病因，因为非桥粒基因的突变也与其发病机制有关。本综述将探讨ARVC的病理学、遗传基础和发病机制。
