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


CONCLUSIONS
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.
Cook
Amanda L
AL
Division of Pediatric Cardiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Kishnani
Priya S
PS
Carboni
Michael P
MP
Kanter
Ronald J
RJ
Chen
Y T
YT
Ansong
Annette K
AK
Kravitz
Richard M
RM
Rice
Henry
H
Li
Jennifer S
JS
D006332:Cardiomegaly; D002675:Child, Preschool; D015716:Electrocardiography, Ambulatory / Q000187:drug effects*; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology; D006329:Heart Conduction System; D006801:Humans; D007223:Infant; D008297:Male; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D018879:Ventricular Premature Complexes / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000008:administration & dosage / Q000627:therapeutic use*
D011994:Recombinant Proteins; D006003:Glycogen; C509951:GAA protein, human; D000520:alpha-Glucosidases