目的 探讨线粒体心肌病的临床特点及诊治。方法 回顾分析1例罕见的线粒体tRNA变异致心肌病合并癫 痫患儿的临床资料，并进行文献复习。结果 患儿，男，15月龄，因反复抽搐入院，临床表现为发育迟缓，左心房室扩大、心 肌肥厚、左心室收缩功能减低，血乳酸增高，视频脑电图异常；基因检测发现患儿携带tRNA基因4300 A>G变异。诊断为 线粒体心肌病，予强心、利尿、辅酶Q10和左卡尼汀改善代谢及抗癫痫治疗。目前随访3月余，患儿左心房室较前缩小，心功 能明显好转。结论 儿童心肌病合并神经系统功能障碍、高乳酸血症等多系统官功能障碍时，需注意线粒体心肌病可能。

Objective To investigate the clinical features, diagnosis and treatment of mitochondrial cardiomyopathy. Methods We retrospectively analyzed a rare case of cardiomyopathy complicated with epilepsy caused by mitochondrial tRNA mutation and reviewed the related literature. Results A boy of 1 year and 3 months of age was admitted to hospital due to recurrent convulsions. The clinical manifestations were developmental retardation, left atrioventricular enlargement, myocardial hypertrophy, reduced left ventricular systolic function, increased blood lactic acid, and abnormal video electroencephalogram. Genetic testing found that the child carried an m. 4300 A>G mutation in tRNA gene, and he was diagnosed as mitochondrial cardiomyopathy. The metabolism is improved by using cardiotonic drug, diuretic drug, coenzyme Q10 and levocarnitine and antiepileptic drug treatment. At present, the patient was followed up for more than 3 months, his left atrium and ventricle was smaller than before, and the heart function was significantly improved. Conclusions The possibility of mitochondrial cardiomyopathy should be paid attention to when children’s cardiomyopathy is complicated with neurological dysfunction, hyperlactacidemia and other multi-system dysfunction.