心肌病的再認(rèn)識——從遺傳學(xué)出發(fā)的探索

【摘要】心肌病具有高度的復(fù)雜性和異質(zhì)性，對它的認(rèn)識和研究已從形態(tài)學(xué)逐漸過渡到分子生物學(xué)和遺傳學(xué)，揭示了遺傳致病基因、基因缺失和基因突變是一些家族性和非家族性心肌病的直接病因，并與臨床表型密切相關(guān)，為現(xiàn)在和未來的基因靶向治療提供了可靠依據(jù)。

【關(guān)鍵詞】心肌??；基因突變；基因治療

【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

人們對心肌病的認(rèn)識走過了漫長而曲折的道路，由于其復(fù)雜性和異質(zhì)性，診斷和治療仍存在許多困難和挑戰(zhàn)，其發(fā)病機制、有效治療方法和藥物的研發(fā)至今仍處于探索過程中。（剩余7064字）