儿童先天代谢异常伴发的肥厚型心肌病

儿童先天代谢异常是导致肥厚型心肌病（HCM）的重要病因， 掌握每种疾病的特征性表现有助于正确的诊断及鉴别诊断。多数先天代谢异常伴发HCM属于常染色体隐性遗传，少数为常染色体显性遗传X连锁遗传方式，部分线粒体病呈母系遗传。常规心电图、超声心动图等心脏检查即可以为部分疾病的基础病因找到诊断线索。随着酶替代疗法等新的治疗方法的不断进步，加强心脏评估，恰当地针对原发病治疗，多学科协同合作将为越来越多的患者生存提供可能。

Hypertrophic cardiomyopathy associated with malformation syndrome in children

??Hypertrophic cardiomyopathy??HCM?? is defined by the presence of increased left ventricular??LV?? wall thickness that is not solely explained by abnormal loading conditions. It includes familial HCM caused by mutations in the genes encoding the cardiac muscle branch contraction-associated protein??as well as hereditary HCM caused by mutations in genes encoding non-muscle-contracting system-associated proteins. Malformation syndromes are symptom complex characterized by multi-system and multi-organ abnormality. HCM can be the only or major manifestation of its cardiovascular system lesions. The article will briefly introduce HCM associated with malformation syndrome in children.