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左室心肌致密化不全(left ventricular noncompaction，LVNC)是一种罕见且病因不明的心肌病，以突出的肌小梁和深陷的隐窝为主要病理表现，是儿童三大心肌病之一。LVNC存在多种不同的遗传模式，如X连锁隐性遗传、常染色体显性遗传、线粒体遗传等。一些编码肌节或细胞骨架蛋白的基因突变也被证明与LVNC相关。作为一种合并了致命性心律失常、心力衰竭及血栓栓塞等严重并发症的心脏综合事件，LVNC主要通过超声心动图、心脏磁共振等检查来明确诊断。尽早完善遗传学检测，对直系亲属进行筛检，对高危患者密切随访，早期处理各项并发症，将有助于提高患者生存质量并改善预后。“,”Left ventricular noncompaction(LVNC)describes a rare cardiomyopathy of unknown etiology characterized by the presence of prominent trabeculations and deep intertrabecular recesses.It is one of the three major cardiomyopathies among children.LVNC can have different inheritance patterns, including X-linked recessive, autosomal dominant, and mitochondrial inheritance.Mutations in genes encoding sarcomere or cytoskeletal proteins have been identified as causes of LVNC.As a comprehensive cardiac event with serious complications such as life threatening arrhythmias, heart failure and thromboembolism, LVNC is mainly diagnosed through echocardiography, cardiac magnetic resonance and other examinations.Early improvement of genetic evaluation, screening of family members for the mutation, close follow-up of high-risk patients, and early management of complications will help to improve patients′ quality of life and prognosis.