Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

摘要: Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be most common inborn error intracellular cobalamin metabolism. The clinical manifestations cblC are diverse range from intrauterine growth retardation to adult onset neurological disease. occurrence structural heart defects appears increased patients related function enzyme during cardiac embryogenesis, concept supported observation that Mmachc is expressed bulbis cordis developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, echocardiographic evidence LVNC, rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, mutation analysis confirmed diagnosis These findings highlight phenotype can displayed association nonimmune hydrops.