Imperial College, London, UK.
Annu Rev Med. 2010;61:233-53. doi: 10.1146/annurev.med.052208.130419.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) has a prevalence of at least 1 in 1000, is a leading cause of sudden cardiac death in people aged < or =35 years, and accounts for up to 10% of deaths from undiagnosed cardiac disease in the <65 age group. The classic form of the disease has an early predilection for the right ventricle, but recognition of left-dominant and biventricular subtypes has prompted proposal of the broader term arrhythmogenic cardiomyopathy. The clinical profile of the disease bridges the gap between the cardiomyopathies and inherited arrhythmia syndromes. The early "concealed" phase is characterized by propensity toward ventricular tachyarrhythmia in the setting of well-preserved morphology, histology, and ventricular function. As the disease progresses, however, myocyte loss, inflammation, and fibroadiposis become evident. Up to 40% of cases harbor rare variants in genes encoding components of the desmosome, specialized intercellular junctions that confer mechanical strength to cardiac and epithelial tissue, and may also participate in signaling networks. Phenotypic heterogeneity and the nonspecific nature of associated features complicate clinical diagnosis, which requires multipronged cardiovascular investigation rather than a single test. Development of a prospectively validated risk-stratification algorithm for the full disease spectrum remains the foremost clinical challenge.
致心律失常性右室心肌病（ARVC）的患病率至少为每 1000 人中 1 例，是 < 35 岁人群心源性猝死的主要原因，占 < 65 岁年龄组未诊断心脏病死亡的 10%。该病的经典形式早期偏爱右心室，但对左优势型和双心室亚型的认识促使提出了更广泛的致心律失常性心肌病这一术语。该病的临床表现介于心肌病和遗传性心律失常综合征之间。早期的“隐匿”阶段以形态、组织学和心室功能良好的情况下发生室性心动过速的倾向为特征。然而，随着疾病的进展，肌细胞丢失、炎症和纤维脂肪增多变得明显。多达 40%的病例存在编码桥粒成分的罕见变异，桥粒是一种特殊的细胞间连接，赋予心脏和上皮组织机械强度，也可能参与信号网络。表型异质性和相关特征的非特异性使得临床诊断变得复杂，这需要多方面的心血管调查，而不仅仅是单一的测试。开发一种针对整个疾病谱的前瞻性验证风险分层算法仍然是最重要的临床挑战。
