甲基丙二酸血症是先天性有机酸代谢异常中最常见的疾病,为常染色体隐性遗传,临床表现复杂多样,无特异性,以神经系统表现最为常见.心血管系统受累在甲基丙二酸血症中相对少见,可表现为房间隔缺损、室间隔缺损、动脉导管未闭、肺动脉狭窄/闭锁、肺动脉瓣发育不良、二尖瓣脱垂、主动脉瓣狭窄、左心室小梁过度形成等结构性心脏病,也可以表现为肺动脉高压、心肌病、高血压、心律失常等.严重的心血管系统受累可导致患儿病情急剧恶化甚至死亡,该文对甲基丙二酸血症相关心血管系统表现进行综述.“,”Methylmalonic acidemia is the most common disease of congenital organic acid metabolic disorders,and it is an autosomal recessive disease.The clinical manifestations of methylmalonic acidemia are non-specific.It is characterized by the neurological symptoms.Cardiovascular diseases have little been associated with methylmalonic acidemia.But,cardiovascular diseases including structural heart disease,pulmonary hypertension,cardiomyopathy,hypertension,arrhythmias,may cause rapid deterioration,or even sudden death.This paper is a review of cardiovascular diseases of methylmalonic acidemia.