Related Experiment Video

Updated: Sep 12, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy

Kentaro Akagi1, Shiro Baba1, Koichi Matsuda1

  • 1Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

JACC. Case Reports
|August 8, 2025
PubMed

Insights

Enzyme replacement therapy (ERT) improves outcomes for infantile-onset Pompe disease (IOPD). However, severe complete atrioventricular block (cAVB) is a rare but critical complication in long-term survivors, requiring medical attention.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatric Endocrinology

Background:

  • Infantile-onset Pompe disease (IOPD) is a rare, fatal genetic disorder.
  • Enzyme replacement therapy (ERT) has significantly improved survival rates for IOPD patients.

Observation:

  • A case study of an 18-year-old male with IOPD treated with ERT.
  • The patient presented with extreme bradycardia and complete atrioventricular block (cAVB).

Findings:

  • ERT is effective in managing IOPD, reducing mortality risk.
  • Severe cAVB is identified as a rare but serious complication in long-term IOPD survivors.

Implications:

  • Clinicians should be vigilant for cAVB in patients with IOPD receiving ERT.
  • Early recognition and management of cAVB are crucial for improving outcomes in long-term IOPD survivors.
Abstract

Keywords:
bradycardiacardiac pacemakercardiomypathy

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