title: Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.
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.
authors.affiliation: Division of Cardiology, Kurume University Medical Center, Japan.
authors.forename: Haruhito
authors.initials: H
authors.lastname: Harada
authors.forename: Hiroki
authors.initials: H
authors.lastname: Uchiwa
authors.forename: Mio
authors.initials: M
authors.lastname: Nakamura
authors.forename: Satoko
authors.initials: S
authors.lastname: Ohno
authors.forename: Hirohiko
authors.initials: H
authors.lastname: Morita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Katoh
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
authors.forename: Hisao
authors.initials: H
authors.lastname: Ikeda
mesh_terms: D056947:Enzyme Replacement Therapy; D005260:Female; D006352:Heart Ventricles / Q000187:drug effects* / Q000503:physiopathology; D006801:Humans; D007068:Iduronidase / Q000494:pharmacology* / Q000627:therapeutic use; D008099:Liver / Q000187:drug effects; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000473:pathology / Q000628:therapy*; D009929:Organ Size / Q000187:drug effects; D013154:Spleen / Q000187:drug effects; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D007068:Iduronidase