心肌细胞线粒体结构和功能的异常导致心肌能量代谢异常,临床表现为心肌病,称为线粒体心肌病。线粒体心肌病患儿具有肥厚型心肌病或扩张型心肌病的临床特征,常伴多系统损害,如身材矮小、感音性重听、肌张力低下、小脑共济失调、智力低下、视网膜色素变性、白内障等。该病主要由线粒体DNA突变所致。目前尚无特效治疗方法,治疗措施主要包括心肌病的一般治疗及并发症的对症治疗,可应用辅酶Q10、大剂量B族维生素等。目前开始探讨基因治疗的可能性。 Myocardial mitochondrial structure and function of abnormalities lead to abnormal myocardial energy metabolism, clinical manifestations of cardiomyopathy, known as mitochondrial cardiomyopathy. Children with mitochondrial cardiomyopathy have clinical features of hypertrophic cardiomyopathy or dilated cardiomyopathy, often accompanied by multiple system impairments such as short stature, severe hearing loss, hypotonia, cerebellar ataxia, mental retardation, retinitis pigmentosa , Cataract and so on. The disease is mainly caused by mutations in mitochondrial DNA. There is no effective treatment, the treatment measures include the general treatment of cardiomyopathy and symptomatic treatment of complications, the application of coenzyme Q10, high doses of B vitamins. Now start exploring the possibility of gene therapy.