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Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease

Lei-Ru Chen1, Chun-An Chen, Shuenn-Nan Chiu

  • 1Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.

The Journal of Pediatrics
|June 3, 2009
PubMed

Insights

Enzyme replacement therapy (ERT) can improve cardiac function in infants with Pompe disease. However, starting ERT after 5 months of age may lead to unpredictable outcomes in symptomatic infants.

Area of Science:

  • Pediatric Cardiology
  • Rare Genetic Diseases
  • Enzyme Replacement Therapy

Background:

  • Pompe disease is a rare genetic disorder affecting cardiac function in infants.
  • Cardiac manifestations include cardiomegaly, hypertrophic myocardium, and elevated B-type natriuretic peptide.
  • Early detection and intervention are crucial for managing Pompe disease outcomes.

Purpose of the Study:

  • To compare the efficacy of enzyme replacement therapy (ERT) on cardiac performance in infants with Pompe disease.
  • To evaluate the impact of ERT timing on cardiac outcomes in symptomatic versus symptom-free infants.
  • To assess the relationship between age at ERT initiation and treatment effectiveness.

Main Methods:

  • Retrospective analysis of Pompe disease patients diagnosed between 1983 and 2008.
  • Categorization of symptomatic patients into early (Clin-E) and late (Clin-L) treatment groups based on age at ERT initiation (cut-off at 5 months).
  • Inclusion of symptom-free patients identified through newborn screening (NBS) for comparison.

Main Results:

  • ERT improved survival and cardiac outcomes in all treated groups.
  • Regressed myocardial hypertrophy and reduced B-type natriuretic peptide levels were observed within 1-6 months of ERT.
  • Late ERT initiation (Clin-L) was associated with poorer outcomes, including deaths and need for ventilator support.
  • Life-threatening arrhythmias occurred in some late-treated patients, but not in the NBS group.

Conclusions:

  • Enzyme replacement therapy (ERT) can restore cardiac function in both symptomatic and symptom-free infants with Pompe disease.
  • The beneficial effects of ERT on cardiac function may be unpredictable when initiated after 5 months of age.
  • Newborn screening and early ERT initiation are critical for optimal cardiac outcomes in Pompe disease.
Abstract

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