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Updated: Aug 8, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme
Amanda L Cook1, Priya S Kishnani, Michael P Carboni
1Division of Pediatric Cardiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Insights
Infantile Pompe disease patients may develop arrhythmias during enzyme replacement therapy (ERT). Routine 24-hour ambulatory electrocardiograms (ECGs) are recommended to monitor for ectopy, especially early in treatment.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Infantile Pompe disease results from acid alpha-glucosidase deficiency.
- Enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase improves cardiac function.
- Cardiac involvement is a significant concern in infantile Pompe disease.
Purpose of the Study:
- To evaluate 24-hour ambulatory electrocardiograms (ECGs) in infantile Pompe disease patients.
- To assess cardiac rhythm changes during enzyme replacement therapy (ERT).
- To identify potential risks associated with ERT in this population.
Main Methods:
- Analysis of 32 ambulatory ECGs from 12 infantile Pompe disease patients.
- ECGs were recorded at baseline and during ERT.
- Patients initiated ERT at a median age of 7.4 months.
Main Results:
- Two of 12 patients exhibited significant ectopy.
- One patient showed a slight increase in premature ventricular contractions during ERT.
- Another patient had a notable burden of premature ventricular contractions at 11 weeks of ERT.
Conclusions:
- Preexisting ectopy can be present in infantile Pompe disease.
- Ectopy may develop or change during ERT.
- Routine 24-hour ambulatory ECG monitoring is valuable for managing these patients.
- The early phase of ERT, with significant left ventricular mass reduction, may pose the highest risk for cardiac rhythm disturbances.
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.
