Akagi Kentaro, Baba Shiro, Matsuda Koichi, Yoshida Takeshi, Hirata Takuya, Yokoyama Atsushi, Yoneda Fumiya, Fukumura Fumiaki, Kume Eitaro, Takita Junko
Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
JACC Case Rep. 2025 Aug 6;30(22):104569. doi: 10.1016/j.jaccas.2025.104569.
Infantile-onset Pompe disease (IOPD) is a lethal disorder, but enzyme replacement therapy (ERT) has dramatically improved the prognosis of these patients.
An 18-year-old male patient, who had been diagnosed with IOPD based on decreased α-glucosidase activity in his infancy and received ERT, visited an emergency department at Kyoto University Hospital with poor complexion. An electrocardiogram showed extreme bradycardia and complete atrioventricular block (cAVB), and permanent pacemaker was implanted for cAVB.
ERT has reduced the risk of death in patients with IOPD; on the other hand, severe cAVB in those patients needs to be recognized as a rare complication.
TAKE-HOME MESSAGE: cAVB is a rare but critical complication in long-term survivors of IOPD and deserves attention.
婴儿型庞贝病（IOPD）是一种致命性疾病，但酶替代疗法（ERT）已显著改善了这些患者的预后。
一名18岁男性患者，婴儿期因α-葡萄糖苷酶活性降低被诊断为IOPD并接受ERT治疗，因面色不佳前往京都大学医院急诊科就诊。心电图显示极度心动过缓和完全性房室传导阻滞（cAVB），遂为其植入永久性起搏器以治疗cAVB。
ERT降低了IOPD患者的死亡风险；另一方面，这些患者中严重的cAVB应被视为一种罕见的并发症。
cAVB是IOPD长期存活者中一种罕见但严重的并发症，值得关注。
