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Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I
Haruhito Harada1, Hiroki Uchiwa, Mio Nakamura
1Division of Cardiology, Kurume University Medical Center, Japan.
Molecular Genetics and Metabolism
|April 13, 2011
Summary
Laronidase (recombinant human α-L-iduronidase) therapy improved cardiac function in a patient with mucopolysaccharidosis I (MPS I). Echocardiography revealed enhanced left ventricular myocardial strain and torsion, suggesting treatment benefits for valvular heart disease.
Area of Science:
- Biochemistry
- Cardiology
- Genetics
Background:
- Mucopolysaccharidosis I (MPS I) is a rare genetic disorder leading to progressive multi-systemic complications, including cardiac dysfunction.
- Valvular heart disease is a common manifestation of MPS I, significantly impacting patient morbidity and mortality.
Observation:
- A 49-year-old female patient with MPS I and valvular heart disease was treated with laronidase (recombinant human α-L-iduronidase) replacement therapy.
- Treatment duration was 6 months, with regular monitoring of biochemical markers and cardiac function.
Findings:
- Laronidase therapy led to a 78.8% decrease in urinary uronic acid, improved hepatosplenomegaly, and a 19.6% reduction in left ventricular (LV) mass.
- While LV ejection fraction remained unchanged, advanced imaging (2D ultrasound speckle tracking) demonstrated significant improvements in LV myocardial longitudinal strain, radial strain, and torsion, indicating normalized myocardial function.
Implications:
- This study presents the first evidence of laronidase treatment positively impacting LV myocardial function in an adult MPS I patient.
- These findings suggest laronidase may offer a therapeutic benefit for cardiac manifestations in MPS I, warranting further investigation in larger cohorts.
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