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Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis I
Haruhito Harada1, Hiroshi Niiyama, Atsushi Katoh
1Department of Cardiology, Kurume University Medical Center, 155-1, Kokubu-machi, Kurume, 839-0863, Japan, harada_haruhito@med.kurume-u.ac.jp.
JIMD Reports
|May 23, 2014
Summary
Long-term laronidase replacement therapy (LRT) significantly improved diastolic function and contraction synchrony in an adult with mucopolysaccharidosis I (MPS I). This enzyme replacement therapy normalized key cardiac parameters, offering new insights into MPS I management.
Area of Science:
- Cardiology
- Genetics
- Biochemistry
Background:
- Mucopolysaccharidosis I (MPS I) is a rare genetic disorder characterized by the accumulation of glycosaminoglycans.
- Cardiac involvement, particularly left ventricular (LV) dysfunction, is a significant complication in MPS I patients.
- Current treatment options for MPS I primarily focus on managing symptoms and slowing disease progression.
Purpose of the Study:
- To evaluate the long-term effects of laronidase replacement therapy (LRT) on left ventricular (LV) function in an adult woman with MPS I.
- To assess changes in LV mass, systolic and diastolic function, and contraction synchrony following LRT.
- To explore the correlation between cardiac parameters and biochemical markers after treatment.
Main Methods:
- A case study of a 52-year-old woman with MPS I receiving long-term LRT.
- Assessment of urinary uronic acid concentration to monitor treatment efficacy.
- Two-dimensional (2D) echocardiography and 2D speckle tracking imaging were used to evaluate LV function, mass, and contraction synchrony.
Main Results:
- LRT led to a significant 78.7% decrease in urinary uronic acid concentration.
- Estimated LV weight decreased by 33.3% after LRT.
- Diastolic LV function parameters, including deceleration time (DcT) and E/A ratio, significantly improved and normalized. Contraction synchrony also showed marked improvement, with a decrease in time delay from 148 to 14 ms.
- Systolic function (ejection fraction) remained unchanged.
- LV weight significantly correlated with diastolic function parameters and contraction synchrony.
Conclusions:
- Long-term laronidase replacement therapy (LRT) significantly improves diastolic left ventricular (LV) function and contraction synchrony in adult patients with mucopolysaccharidosis I (MPS I).
- This is the first study to demonstrate these specific cardiac benefits of LRT in an MPS I patient.
- The findings suggest that LRT may play a crucial role in mitigating cardiac complications associated with MPS I.
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