Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I

Mol Genet Metab. 2011 Jul;103(3):215-9. doi: 10.1016/j.ymgme.2011.03.016. Epub 2011 Mar 21.

Abstract

We assessed whether laronidase (recombinant human α-L-iduronidase) replacement therapy could improve left ventricular (LV) myocardial function in a 49-year-old woman with mucopolysaccharidosis I (MPS I) and valvular heart disease. After 6 months of laronidase treatment, the concentration of urinary uron acid decreased by 78.8%. Hepatosplenomegaly improved and LV weight decreased by 19.6%. LV ejection fraction assessed by two-dimensional echocardiogram did not change after laronidase treatment. However, in two-dimensional ultrasound speckle tracking imaging method, LV myocardial longitudinal strain (shortening ratio) increased from -13.2 to -17.4%. LV myocardial radial strain (thickening ratio) increased from 26.6 to 83.4%. LV myocardial torsion increased from +6 to +18°. These indexes of myocardial function were normalized after laronidase treatment. Thus, our findings were a first report that laronidase treatment had a beneficial effect on LV myocardial function in an adult patient with MPS I.

Publication types

  • Case Reports

MeSH terms

  • Enzyme Replacement Therapy*
  • Female
  • Heart Ventricles / drug effects*
  • Heart Ventricles / physiopathology
  • Humans
  • Iduronidase / pharmacology*
  • Iduronidase / therapeutic use
  • Liver / drug effects
  • Middle Aged
  • Mucopolysaccharidosis I / pathology
  • Mucopolysaccharidosis I / therapy*
  • Organ Size / drug effects
  • Spleen / drug effects
  • Time Factors
  • Treatment Outcome

Substances

  • Iduronidase