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Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.

Publication ,  Journal Article
Levine, JC; Kishnani, PS; Chen, YT; Herlong, JR; Li, JS
Published in: Pediatr Cardiol
November 2008

BACKGROUND: Infantile Pompe disease (glycogen storage disease type 2) is a fatal disorder caused by deficiency of acid alpha-glucosidase. This deficiency results in glycogen accumulation in the lysosomes of many tissues including cardiac muscle. The disease is characterized by profound hypotonia, poor growth, organomegaly, and cardiomegaly. Severe hypertrophic cardiomyopathy often is present in early infancy, and most patients die of cardiac or respiratory failure in the first year of life. This report describes the cardiac response of infants with Pompe disease to a phase 2 trial of enzyme replacement therapy (ERT). METHODS: Eight patients with classical infantile Pompe disease were given intravenous recombinant human GAA (rhGAA) for 1 year. Cardiac monitoring included echocardiography, electrocardiograms (ECGs), chest radiographs, and clinical cardiac evaluation at 4, 8, 12, 24, 36, and 52 weeks. At 52 weeks, 6 patients were alive. RESULTS: Most of the treated patients had rapid regression of ventricular hypertrophy in response to ERT, with near normalization of posterior wall thickness, ventricular mass, and ventricular size. Systolic ventricular function was preserved despite rapid changes in ventricular mass and size. Concomitantly, ECGs documented lengthening of the PR interval and decreased ventricular voltages, whereas chest radiographs documented a decreased cardiothoracic ratio. Symptoms of pulmonary congestion were diminished, and survival was improved. CONCLUSION: The cardiovascular system responds quickly and strikingly to ERT with rhGAA, suggesting rapid reversal of excessive glycogen storage in cardiac muscle cells. Changes in ventricular mass and function are maintained throughout 1 year of follow-up evaluation and associated with decreased morbidity and prolonged survival.

Duke Scholars

Published In

Pediatr Cardiol

DOI

ISSN

0172-0643

Publication Date

November 2008

Volume

29

Issue

6

Start / End Page

1033 / 1042

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Statistics, Nonparametric
  • Recombinant Proteins
  • Radiography, Thoracic
  • Male
  • Infusions, Intravenous
  • Infant, Newborn
  • Infant
  • Humans
 

Citation

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Levine, J. C., Kishnani, P. S., Chen, Y. T., Herlong, J. R., & Li, J. S. (2008). Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. Pediatr Cardiol, 29(6), 1033–1042. https://doi.org/10.1007/s00246-008-9267-3
Levine, Jami C., Priya S. Kishnani, Y. T. Chen, J Rene Herlong, and Jennifer S. Li. “Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.Pediatr Cardiol 29, no. 6 (November 2008): 1033–42. https://doi.org/10.1007/s00246-008-9267-3.
Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS. Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. Pediatr Cardiol. 2008 Nov;29(6):1033–42.
Levine, Jami C., et al. “Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.Pediatr Cardiol, vol. 29, no. 6, Nov. 2008, pp. 1033–42. Pubmed, doi:10.1007/s00246-008-9267-3.
Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS. Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. Pediatr Cardiol. 2008 Nov;29(6):1033–1042.
Journal cover image

Published In

Pediatr Cardiol

DOI

ISSN

0172-0643

Publication Date

November 2008

Volume

29

Issue

6

Start / End Page

1033 / 1042

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Statistics, Nonparametric
  • Recombinant Proteins
  • Radiography, Thoracic
  • Male
  • Infusions, Intravenous
  • Infant, Newborn
  • Infant
  • Humans