Heart and Vessels

, Volume 34, Issue 2, pp 290–295 | Cite as

Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy

  • Fabiano de Oliveira Poswar
  • Carolina Fischinger Moura de Souza
  • Roberto Giugliani
  • Guilherme BaldoEmail author
Original Article


Mucopolysaccharidoses (MPS) are disorders characterized by impaired glycosaminoglycan (GAG) catabolism as a consequence of a deficiency or the absence of lysosomal enzymes directly involved in their degradation. Multiple organ systems are involved in MPS, including the cardiovascular system. Recently, aortic root dilatation (ARD) has been described in these patients. Thus, we reviewed aortic root diameter measurements in 69 MPS patients from a single center from 2000 to 2016. Aortic root diameter z scores were calculated based on data published by Colan et al. according to the body surface area (BSA) determined using the Haycock formula. The overall incidence of ARD in MPS patients was 39.1%. Higher mean z scores were present in patients with MPS IVA and VI when compared to MPS I and II. Aortic root z scores were higher in older MPS IVA patients, which may suggest a progressive ARD change in this MPS type. No significant differences were found before and after enzyme replacement therapy (ERT) in 11 patients with available data (2 with MPS I; 4 with MPS II; 2 with MPS IVA, and 3 with MPS VI). This work provides further evidence that ARD is common in different types of MPS, being especially evident in MPS IVA, but with a significant occurrence also in MPS VI.


Aorta Mucopolysaccharidoses Enzyme replacement therapy Dissecting aneurysm 



We thank the Isaac Foundation and Conselho Nacional de Desenvolvimento Científico (CNPq) for funding this study.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

For this type of study, formal informed consent is not required.

Research involving human and/or animal participants

This article does not contain any animal studies performed by any of the authors.


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Copyright information

© Springer Japan KK, part of Springer Nature 2018

Authors and Affiliations

  • Fabiano de Oliveira Poswar
    • 1
    • 2
  • Carolina Fischinger Moura de Souza
    • 2
    • 5
  • Roberto Giugliani
    • 1
    • 2
    • 3
  • Guilherme Baldo
    • 1
    • 2
    • 4
    • 5
    Email author
  1. 1.Postgraduate Program in Genetics and Molecular BiologyUFRGSPorto AlegreBrazil
  2. 2.Gene Therapy CenterHospital de Clínicas de Porto Alegre (HCPA)Porto AlegreBrazil
  3. 3.Department of GeneticsUFRGSPorto AlegreBrazil
  4. 4.Postgraduate Program in PhysiologyUFRGSPorto AlegreBrazil
  5. 5.Medical Genetics ServiceHospital de Clínicas de Porto Alegre (HCPA)Porto AlegreBrazil

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