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Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I

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JIMD Reports Volume 16

Part of the book series: JIMD Reports ((JIMD,volume 16))

Abstract

We assessed the effects of long-term laronidase replacement therapy (LRT) on the left ventricular (LV) function of a 52-year-old adult woman with mucopolysaccharidosis I (MPS I). The urinary uronic acid concentration significantly decreased by 78.7% (from 75 to 16 mg/g creatinine) after LRT; thereafter, estimated LV weight as assessed by two-dimensional (2D) echocardiography significantly decreased by 33.3% (from 189 to 126 g). Although systolic LV function of the ejection fraction as assessed by 2D echocardiogram did not change after LRT, the diastolic LV function parameters of the deceleration time (DcT) and the ratio of early (E) to late (A) ventricular filling velocities (E/A ratio) significantly improved. The DcT significantly decreased from 355 to 300 ms and the E/A ratio significantly decreased from 1.8 to 0.98. These diastolic parameters were normalized. In the contraction synchrony assessed by 2D speckle tracking imaging, the maximum time delay of contraction decreased from 148 to 14 ms. In addition, the LV weight significantly correlated with the E/A ratio (p < 0.001, r = 0.63), DcT (p < 0.05, r = 0.48), and contraction synchrony (p < 0.001, r = 0.61), respectively. This is the first study to report that LRT significantly improves diastolic LV function and contraction synchrony in a patient with MPS I.

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Acknowledgments

We would like to thank Hiroyoshi Ryu and Masaji Honda for their technical assistance in echocardiography and Emiko Shiotani for her excellent secretarial assistance.

Author information

Authors and Affiliations

  1. Department of Cardiology, Kurume University Medical Center, 155-1, Kokubu-machi, Kurume, 839-0863, Japan

    Haruhito Harada, Hiroshi Niiyama, Atsushi Katoh & Hisao Ikeda

Authors
  1. Haruhito Harada
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  2. Hiroshi Niiyama
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  3. Atsushi Katoh
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  4. Hisao Ikeda
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Corresponding author

Correspondence to Haruhito Harada .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. WSU Division of Health Sciences Clinical Pharmacology Unit, Spokane, Washington, USA

    K. Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Department of Pediatrics IGMD, Tulane University Medical School Hayward Genetics Center, New Orleans, Louisiana, USA

    Eva Morava

  5. Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Carla E. Hollak, M.D.

Appendices

Funding

We had no funding source for this study.

Disclosure

All authors declare there is no conflict of interest associated with this study.

Synopsis

Long-term laronidase replacement therapy leads to improvements in left ventricular diastolic function and contraction synchrony in an adult patient with mucopolysaccharidosis I.

Compliance with Ethics Guidelines

Conflict of Interest

Haruhito Harada, Hiroshi Niiyama, Atsushi Katoh, and Hisao Ikeda declare that they have no conflict of interest.

Informed Consent

All procedures were followed in accordance with the ethical standards of the responsible committee on human experimentation in Kurume University and with the Helsinki Declaration of 1975, as revised in 2005. The signed informed consent form was obtained from the patient for their inclusion in the study.

Animal Rights

This article does not refer to any animal studies performed by the authors.

Author Contributions

Haruhito Harada contributed to data collection, data analysis, and preparation of the manuscript and figures.

Hiroshi Niiyama contributed in terms of clinical therapy.

Atsushi Katoh contributed in terms of clinical therapy and data interpretation.

Hisao Ikeda contributed to data interpretation, literature search, and preparation of the manuscript and figures.

Competing Interests

There are no competing interests.

Funding

There is no funding source for this study.

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© 2014 SSIEM and Springer-Verlag Berlin Heidelberg

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Harada, H., Niiyama, H., Katoh, A., Ikeda, H. (2014). Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports Volume 16. JIMD Reports, vol 16. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_316

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  • DOI: https://doi.org/10.1007/8904_2014_316

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-44586-0

  • Online ISBN: 978-3-662-44587-7

  • eBook Packages: MedicineMedicine (R0)

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