Danon病(Danon Disease
DD)是一种罕见的X连锁溶酶体贮积症。本文报道了一个DD家系,共2人携带溶酶体相关膜蛋白2(Lysosomal Associated Membrane Protein 2
LAMP2)基因的致病突变c.928G>C:p.V310L。两名患者表现出不同的临床表型。先证者接受了两次经导管心脏射频消融术,分别消融了左、右两侧旁道。先证者母亲以反复心力衰竭为主要表现。在母亲进行心脏移植之前,尝试使用左束支区域起搏(Left Bundle Branch Area Pacing
LBBAP)结合左室电极进行再同步化改善心功能。据我们所知,这是首例被报道接受LBBAP进行心脏再同步化治疗的DD患者。左束支区域起搏在原起搏模式基础上可能进一步延缓了该患者心衰的进展,心脏移植术后标本展示了这种罕见病中LBBAP电极的位置及与起搏图形的关系。证实在该类患者中,左束支区域起搏技术能够成功实施。
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