Asimaki Angeliki, Saffitz Jeffrey E
Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School , Boston, MA , USA.
Cell Commun Adhes. 2014 Feb;21(1):13-23. doi: 10.3109/15419061.2013.876016.
Arrhythmogenic cardiomyopathy (AC) is a primary myocardial disorder characterized by a high incidence of ventricular arrhythmias often preceding the onset of ventricular remodeling and dysfunction. Approximately 50% of patients diagnosed with AC have one or more mutations in genes encoding desmosomal proteins, although non-desmosomal genes have also been associated with the disease. Increasing evidence implicates remodeling of intercalated disk proteins reflecting abnormal responses to mechanical load and aberrant cell signaling pathways in the pathogenesis of AC. This review summarizes recent advances in understanding disease mechanisms in AC that have come from studies of human myocardium and experimental models.
致心律失常性心肌病（AC）是一种原发性心肌疾病，其特征是室性心律失常的发生率很高，通常在心室重塑和功能障碍发作之前出现。大约50%被诊断为AC的患者在编码桥粒蛋白的基因中有一个或多个突变，尽管非桥粒基因也与该疾病有关。越来越多的证据表明，反映对机械负荷异常反应和异常细胞信号通路的闰盘蛋白重塑在AC的发病机制中起作用。这篇综述总结了来自对人类心肌和实验模型研究的关于AC疾病机制理解的最新进展。
