【摘要】 左心室心肌致密化不全心肌病作为2018年第一批录入中国罕见病目录的疾病之一，临床表现多为心功能不全、心律失常及血栓栓塞。尽管其在30年前首次被报道，但发病机制尚未完全阐明。现通过综述近年相关的文献，旨在阐明与左心室心肌致密化不全心肌病发病机制相关基因的研究新进展，以增加对该疾病进行基因诊断的认知，为今后该疾病在临床的诊疗提供更多的循证医学依据和参考。更多还原

【Abstract】 Left ventricular noncompaction cardiomyopathy is one of the first rare diseases in China.Its clinical manifestations are mostly cardiac insufficiency, arrhythmia and thromboembolism.Although left ventricular noncompaction cardiomyopathy was first reported 30 years ago, the pathogenesis has not been fully clarified.Therefore, this article aims to clarify the new progress of genes that may be related to the pathogenesis of left ventricular noncompaction cardiomyopathy by reviewing relevant literature in recent years, so as to increase the cognition of gene diagnosis of this disease and provide more evidence based medical evidence and reference for the future clinical diagnosis and treatment of this disease.更多还原