Hua Tian-Rui, Zhang Shu-Yang
Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Chronic Dis Transl Med. 2020 Jul 5;6(4):224-238. doi: 10.1016/j.cdtm.2020.05.006. eCollection 2020 Dec.
Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation, hypertrophy, and cardiac arrhythmia. Patients with cardiomyopathies often experience sudden death and cardiac failure and require cardiac transplantation during the course of disease progression. Early diagnosis, differential diagnosis, and genetic consultation depend on imaging techniques, genetic testing, and new emerging diagnostic tools such as serum biomarkers. The molecular genetics of cardiomyopathies has been widely studied recently. The discovery of mechanisms underlying heterogeneity and overlapping of the phenotypes of cardiomyopathies has revealed the existence of disease modifiers, and this has led to the emergence of novel disease-modifying therapy. This 2018-2019 state-of-the-art review outlines the pathogenesis, diagnosis, and treatment of cardiomyopathies in China.
心肌病是心肌疾病,常表现为心室扩张、肥厚和心律失常。心肌病患者常经历猝死和心力衰竭,在疾病进展过程中需要进行心脏移植。早期诊断、鉴别诊断和遗传咨询依赖于成像技术、基因检测以及血清生物标志物等新兴诊断工具。近年来,心肌病的分子遗传学得到了广泛研究。心肌病表型异质性和重叠性潜在机制的发现揭示了疾病修饰因子的存在,这导致了新型疾病修饰疗法的出现。这篇2018 - 2019年的前沿综述概述了中国心肌病的发病机制、诊断和治疗。