目的　探讨Barth综合征（BTHS）的临床表现及遗传学特征。方法　回顾分析1例BTHS患儿的临床资料。结 果　患儿，男，10月龄，以左室增大，爆发性心肌炎，心力衰竭，肌无力，单核细胞增多，低血糖，乳酸性酸中毒，腹泻，面部 异常等为主要表现。基因测序显示TAZ基因存在一个错义突变（c.406C＞T，p.Cys136Arg），突变来自患儿母亲。结论 扩 充了中国BTHS的基因突变谱及临床特征。

Objective　To explore the clinical manifestations and genetic characteristics of Barth syndrome (BTHS). Method　The clinical data of BTHS in a child were retrospectively analyzed. Results　A 10-month-old boy had the main manifestations of left ventricular enlargement, fulminant myocarditis, heart failure, muscle weakness, mononucleosis, hypoglycemia, lactic acidosis, diarrhea and facial abnormalities. Gene sequencing revealed a missense mutation in TAZ gene (c.406C>T, p.Cys136Arg), which came from his mother. Conclusion　The gene mutation spectrum and clinical characteristics of BTHS in China were expanded.