Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.
Author(s): Harada H, Uchiwa H, Nakamura M, Ohno S, Morita H, Katoh A, Yoshino M, Ikeda H
Affiliation(s): Division of Cardiology, Kurume University Medical Center, Japan.
Publication date & source: 2011-07, Mol Genet Metab., 103(3):215-9. Epub 2011 Mar 21.
Publication type: Case Reports
We assessed whether laronidase (recombinant human alpha-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 degrees . 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. Crown Copyright (c) 2011. Published by Elsevier Inc. All rights reserved.