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Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I,

Hsiang-Yu Lin1, Chih-Kuang Chuang2, Ming-Ren Chen3

  • 1Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.

Molecular Genetics and Metabolism
|February 23, 2016
PubMed

Insights

Enzyme replacement therapy (ERT) effectively reduces cardiac hypertrophy in mucopolysaccharidoses (MPS) patients, especially when initiated early. However, ERT shows limited impact on associated valvular heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Biochemistry

Background:

  • Enzyme replacement therapy (ERT) improves physical symptoms in mucopolysaccharidoses (MPS) but its effect on cardiac issues is unclear.
  • Cardiac abnormalities are a significant concern in MPS patients.

Purpose of the Study:

  • To evaluate the impact of ERT on cardiac abnormalities in Taiwanese patients with MPS types I, II, IVA, and VI.

Main Methods:

  • Retrospective review of medical records and echocardiograms from 28 Taiwanese MPS patients treated with ERT.
  • Analysis of cardiac parameters including left ventricular mass index (LVMI) and interventricular septum thickness in diastole (IVSd) before and after ERT.

Main Results:

  • Significant reduction in interventricular septum thickness in diastole (IVSd) z scores after ERT (mean 3.87 to 2.57).
  • Early ERT initiation (before age 12) led to significant decreases in both LVMI and IVSd z scores.
  • Valvular heart disease (regurgitation or stenosis) showed no improvement with ERT.

Conclusions:

  • ERT is effective in reducing cardiac hypertrophy in MPS patients, particularly when started at a young age.
  • ERT has a limited effect on improving valvular heart disease in MPS patients.
Abstract

Keywords:
CardiacEchocardiographyElectrocardiographyEnzyme replacement therapyMucopolysaccharidosis

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