Abstract
患儿男，12日龄，因"纳减、呕吐半天"入院。心脏彩色多普勒超声：卵圆孔未闭。80日龄因"纳减、呕吐半天"再次入院。心脏彩色多普勒超声：全心增大，以左室左房增大为著，左室心内膜增厚，左心收缩功能降低。5月龄心脏超声：左心增大，心肌受累疾患（心肌致密化不全）。外周血白细胞计数及中性粒细胞绝对值降低。基因检测结果：TAZ基因c.348delc（p.Gly116fs）半合子变异，Sanger证明变异来源于患儿母亲，Barth综合征诊断明确。文献复习发现7例Barth综合征患儿，基因变异5种，所有患儿均为男性，均有心肌病、生长发育迟缓、肌无力等表现，其中5例合并中性粒细胞减少。.
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