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The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness

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Abstract

Mucopolysaccharidosis type I (MPS IS) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase, which is involved in the degradation of sulfated glycosaminoglycans (GAGs). The deficiency results in the intra-and pericellular accumulation of the GAGs heparan sulfate and dermatan sulfate. Eight adult patients with typical features of MPS IS aged 31.5 ± 6.8 years (five men) were included and compared to age-and gender-matched controls. With transthoracic echocardiography, cyclic ascending aortic diameter changes were measured and ascending aortic elastic properties were calculated to characterize aortic elasticity. In MPS IS patients, aortic stiffness index was significantly increased (23.1 ± 10.4 vs 3.9 ± 1.5, P < 0.001), while aortic distensibility was significantly decreased (1.6 ± 0.8 vs 1.6 ± 1.9 Ca2/dynes 10−6, P < 0.001) compared to age-and sex-matched controls. The results of the present study demonstrate that in addition to the known cardiac complications, MPS IS patients have an impairment of ascending aortic elasticity. Further follow-up studies are needed to examine arterial elasticity using other methods in this patient population, and to detect possible effects of enzyme replacement therapy.

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Authors and Affiliations

  1. Department of Cardiology, Thoraxcenter, Erasmus Medical Center Rotterdam, Dr Molewaterplein 40 Room Ba304, 3015 GD, Rotterdam, The Netherlands

    Attila Nemes, Osama I. I. Soliman, Boudewijn J. Krenning, Folkert J. ten Cate & Marcel L. Geleijnse

  2. Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands

    Remco G. M. Timmermans & J. H. P. Wilson

  3. 2nd Department of Medicine and Cardiology Center, University of Szeged, Szeged, Hungary

    Attila Nemes

  4. Department of Cardiology, Al-Hussein University Hospital Al-Azhar University, Cairo, Egypt

    Osama I. I. Soliman

Authors
  1. Attila Nemes
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  2. Remco G. M. Timmermans
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  3. J. H. P. Wilson
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  4. Osama I. I. Soliman
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  5. Boudewijn J. Krenning
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  6. Folkert J. ten Cate
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  7. Marcel L. Geleijnse
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Correspondence to Folkert J. ten Cate.

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Nemes, A., Timmermans, R.G.M., Wilson, J.H.P. et al. The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. Heart Vessels 23, 108–111 (2008). https://doi.org/10.1007/s00380-007-1013-x

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  • DOI: https://doi.org/10.1007/s00380-007-1013-x

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