Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Falk CRVC, 300 Pasteur Drive, Stanford, CA 94305, USA.
Card Electrophysiol Clin. 2023 Sep;15(3):391-399. doi: 10.1016/j.ccep.2023.04.005. Epub 2023 Jun 20.
Arrhythmogenic left ventricular cardiomyopathy is characterized by early malignant ventricular arrhythmia associated with varying degrees and times of onset of left ventricular dysfunction. Variants in numerous genes have been associated with this phenotype. Here, the authors review the literature on recent cohort studies of patients with variants in desmoplakin, lamin A/C, filamin-C, phospholamban, RBM20, TMEM43, and selected channelopathy genes also associated with structural disease. Unlike traditional sudden cardiac death risk assessment in nonischemic cardiomyopathy, left ventricular systolic function is an insensitive predictor of risk in patients with these genetic diagnoses.
致心律失常性左室心肌病的特征是早期恶性室性心律失常，伴不同程度和时间的左心室功能障碍。许多基因的变异与这种表型有关。在这里，作者回顾了关于最近的队列研究的文献，这些研究涉及桥粒蛋白、核纤层蛋白 A/C、细丝蛋白-C、磷酸化肌球蛋白结合蛋白、核 RNA 结合蛋白 20、跨膜蛋白 43 和一些与结构性疾病相关的通道病基因的变异。与非缺血性心肌病中传统的心脏性猝死风险评估不同，左心室收缩功能对这些基因诊断患者的风险预测不敏感。
