title: Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.
abstract: 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.
authors.affiliation: Division of Pediatric Cardiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: Amanda L
authors.initials: AL
authors.lastname: Cook
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: Michael P
authors.initials: MP
authors.lastname: Carboni
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Kanter
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
authors.forename: Annette K
authors.initials: AK
authors.lastname: Ansong
authors.forename: Richard M
authors.initials: RM
authors.lastname: Kravitz
authors.forename: Henry
authors.initials: H
authors.lastname: Rice
authors.forename: Jennifer S
authors.initials: JS
authors.lastname: Li
mesh_terms: 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*
chemical_list: D011994:Recombinant Proteins; D006003:Glycogen; C509951:GAA protein, human; D000520:alpha-Glucosidases