心肌病的再认识——从遗传学出发的探索

【摘要】心肌病具有高度的复杂性和异质性，对它的认识和研究已从形态学逐渐过渡到分子生物学和遗传学，揭示了遗传致病基因、基因缺失和基因突变是一些家族性和非家族性心肌病的直接病因，并与临床表型密切相关，为现在和未来的基因靶向治疗提供了可靠依据。

【关键词】心肌病；基因突变；基因治疗

【DOI】10.16806/j.cnki.issn.1004-3934.2024.11.001

A New Recognition on Cardiomyopathy—In-Depth Exploration of Genetics

ZHANG Xintong，REN Weidong

（Department of Ultrasound，Shengjing Hospital of China Medical University，Shenyang 110000，Liaoning，China）

【Abstract】Due to the high level of complexity and heterogeneity in cardiomyopathy，it has been a gradual transition of research from morphology to molecular biology and genetics.Pathogenesis such as genetic pathogenic gene，gene deletion and gene mutation，has been revealed as direct etiology of certain familial and non-familial cardiomyopathy，which are also closely related with clinical phenotype.Undoubtedly，it provides the reliable evidence to targeted therapy nowadays as well as in the future.

【Keywords】Cardiomyopathy；Gene mutation；Gene therapy

人们对心肌病的认识走过了漫长而曲折的道路，由于其复杂性和异质性，诊断和治疗仍存在许多困难和挑战，其发病机制、有效治疗方法和药物的研发至今仍处于探索过程中。（剩余7064字）