Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease

Genet Med. 2006 May;8(5):313-7. doi: 10.1097/01.gim.0000217786.79173.a8.

Abstract

Purpose: Infantile Pompe disease is caused by deficiency of lysosomal acid alpha-glucosidase. Trials with recombinant human acid alpha-glucosidase enzyme replacement therapy (ERT) show a decrease in left ventricular mass and improved function. We evaluated 24-hour ambulatory electrocardiograms (ECGs) at baseline and during ERT in patients with infantile Pompe disease.

Methods: Thirty-two ambulatory ECGs were evaluated for 12 patients with infantile Pompe disease from 2003 to 2005. Patients had a median age of 7.4 months (2.9-37.8 months) at initiation of ERT. Ambulatory ECGs were obtained at determined intervals and analyzed.

Results: Significant ectopy was present in 2 of 12 patients. Patient 1 had 211 and 229 premature ventricular contractions (0.2% of heart beats) at baseline and at 11.5 weeks of ERT, respectively. Patient 2 had 10,445 premature ventricular contractions (6.7% of heart beats) at 11 weeks of therapy.

Conclusion: Infantile Pompe disease may have preexisting ectopy; it may also develop during the course of ERT. Therefore, routinely monitoring patients using 24-hour ambulatory ECGs is useful. Periods of highest risk may be early in the course of ERT when there is a substantial decrease in left ventricular mass and an initial decrease in ejection fraction.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomegaly
  • Child, Preschool
  • Electrocardiography, Ambulatory / drug effects*
  • Female
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / pathology
  • Glycogen Storage Disease Type II / physiopathology
  • Heart Conduction System
  • Humans
  • Infant
  • Male
  • Recombinant Proteins / administration & dosage
  • Recombinant Proteins / therapeutic use
  • Ventricular Premature Complexes / physiopathology
  • alpha-Glucosidases / administration & dosage
  • alpha-Glucosidases / therapeutic use*

Substances

  • Recombinant Proteins
  • Glycogen
  • GAA protein, human
  • alpha-Glucosidases