[A case report of Danon's disease with dilated phenotype].

Abstract excerpt

Danon病是一种较为罕见的、X连锁显性遗传的溶酶体病，临床上常以心肌肥厚、骨骼肌无力、智力低下三联征为特征性表现。心脏可单独受累，患者多表现为心肌肥厚，预后普遍较差。该文报道心脏呈扩张性表型的Danon病青年女性患者1例，通过心脏磁共振“一站式”检查对其心肌形态学、功能学和组织学特征进行全面评估，磁共振图像示特征性心肌受累表现，最终依靠基因检测确诊。.

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