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Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Objective

To describe cardiac abnormalities in patients with mucopolysaccharidosis (MPS) VI and to evaluate the impact of enzyme replacement therapy (ERT) on cardiac structure and function.

Methods

Data from electrocardiographic and echocardiographic evaluations were retrospectively collected from patients with MPS VI who are followed up at the Children’s Hospital of Mainz.

Results

The study included 44 (16 male and 28 female) patients. At baseline, valvular regurgitation (mainly aortic and mitral) and left ventricular (LV) volume overload were present in over half of patients. Other common cardiac manifestations were sinus tachycardia, LV hypertrophy, concentric LV remodelling, and pulmonary hypertension. One patient had left atrial dilation and one had congestive heart failure. Interventricular septal wall thickness and LV posterior wall thickness were above normal in most patients. Twenty five patients had a pre-ERT and at least one follow-up visit after ERT start. Mean follow-up after ERT start was 5.6 (SD 2.3) years. Despite the late onset (mean age 14.6 years) of treatment, ERT appeared to improve or arrest the progression of LV remodelling and LV hypertrophy and suspend the progression of cardiac valve disease.

Conclusions

MPS VI is associated with an array of cardiac manifestations. ERT appears to have some impact on cardiac structure and function when started late in life, but may have better long-term results when started during early infancy.

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Acknowledgments

The authors are grateful to Ismar Healthcare NV for their writing assistance, which was funded by BioMarin Europe Ltd.

Details of funding

Writing assistance was funded by BioMarin Europe Ltd.

Competing interest

Laila Arash received travel and accommodation costs for meeting and conferences from Genzyme, Shire, Biomarin, Actelion, and honoraria from Genzyme, Biomarin and Shire. Michael Beck received travel grants, honoraria for lectures, from Shire HGT, Genzyme, and BioMarin. The other authors received travel grants, honoraria for lectures, from Shire HGT, Genzyme, BioMarin, and GlaxoSmithKline. Otherwise none.

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Authors and Affiliations

  1. Department of Paediatric cardiology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany

    Christoph Kampmann & Christiane M. Wiethoff

  2. Villa Metabolica, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany

    Christina Lampe, Eugen Mengel, Laila Arash, Michael Beck & Elke Miebach

  3. Department of Neonatology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany

    Catharina Whybra-Trümpler

  4. Department of Paediatric Cardiology, Centre for Diseases in Childhood and Adolescence, Langenbeck Strasse 1, 55131, Mainz, Germany

    Christoph Kampmann

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  1. Christoph Kampmann
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  2. Christina Lampe
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  3. Catharina Whybra-Trümpler
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  4. Christiane M. Wiethoff
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  6. Laila Arash
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  7. Michael Beck
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Correspondence to Christoph Kampmann.

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Communicated by: Verena Peters

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Kampmann, C., Lampe, C., Whybra-Trümpler, C. et al. Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. J Inherit Metab Dis 37, 269–276 (2014). https://doi.org/10.1007/s10545-013-9649-4

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  • DOI: https://doi.org/10.1007/s10545-013-9649-4

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