致心律失常性右心室心肌病研究进展

Study on Progress of Arrhythmogenic Rightventricular Cardiomyopathy/Dysplasial

致心律失常性右心室心肌病是一种由桥粒蛋白突变引发的常染色体显性遗传病,也存在少数隐性遗传。通常涉及到两心室。ARVC是一种具有显著病理和临床特征的不常见原发性心肌病,能够引发心律失常、心力衰竭及突发性心脏死亡,其最显著的特征是心肌逐渐被脂肪和纤维组织所替代。目前ARVC的致病机制尚不明确。

Arrhythmogenic right ventricular cardiomyopathy/dysplasia（ARVC/D） is usually inherited as an autosomal - dominant disease caused by mutations indesmosomal proteins. Although small numbers of recessive forms exist. It often in- volves both ventricles. ARVC is an uncommon eardiomyopathy with obvious pathological and clinical features. It causes cardiac arrthmia,heart failure and sudden cardiac death（SCD）. The characteristic pathological hallmark of ARVC is fibroadipocytie replacement of cardiomyocytes. The pathogenetic mechanisms of ARVC are not yet fully understood at present.