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Published on: December 20, 2017

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease

Roddy McDowell1, Jennifer S Li, Daniel Kelly Benjamin

  • 1Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 25, 2008
PubMed

Insights

Enzyme replacement therapy for infantile Pompe disease is linked to a high incidence of arrhythmias in children. Further research is needed to identify specific risk factors and guide screening protocols.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Enzyme replacement therapy (ERT) improves outcomes in infantile Pompe disease.
  • Cardiac abnormalities, including ectopy, have been observed in these patients.

Purpose of the Study:

  • To determine the prevalence and types of arrhythmias in infants with Pompe disease receiving ERT.
  • To investigate potential associations between arrhythmias and cardiac parameters.

Main Methods:

  • Retrospective review of data from 38 children with infantile Pompe disease in clinical trials.
  • Analysis of electrocardiograms and echocardiograms for QT interval, ejection fraction, and left ventricular mass.
  • Identification and characterization of arrhythmias from various monitoring sources.

Main Results:

  • Arrhythmias occurred in 18% (7 of 38) of children.
  • No significant differences in cardiac parameters were found between children with and without arrhythmias.
  • Two children with severe arrhythmias had high baseline cardiac measurements and experienced events during metabolic stress.

Conclusions:

  • A high incidence of arrhythmias was observed in this cohort.
  • The relationship between ERT, arrhythmias, myocardial fibrosis, and survival requires further investigation.
  • Continued vigilance and screening for arrhythmias in children receiving ERT are recommended.
Abstract

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