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Aortic Root Dilatation in Mucopolysaccharidosis I-VII

Meena Bolourchi1,2, Pierangelo Renella3,4,5, Raymond Y Wang6,7

  • 1Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. meena.bolourchi@gmail.com.

International Journal of Molecular Sciences
|December 6, 2016
PubMed

Insights

Aortic root dilatation (ARD) affects 35% of mucopolysaccharidosis (MPS) patients, particularly MPS IVa. Routine screening for ARD is recommended in all MPS patients.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Aortic root dilatation (ARD) is a known complication in mucopolysaccharidosis (MPS), but its prevalence is not well-documented.
  • Understanding ARD prevalence is crucial for managing cardiovascular risks in MPS patients.

Purpose of the Study:

  • To investigate the prevalence of aortic root dimensions and dilatation in a cohort of patients with various types of MPS.
  • To assess if treatments like hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT) impact aortic root dimensions.

Main Methods:

  • Retrospective chart review and echocardiographic measurements of 34 MPS patients (MPS I-VII).
  • Collected data included diagnosis, treatment status, age, gender, height, weight, and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)).
  • ARD was defined as a z-score > 2 at the SoV; statistical analyses included descriptive statistics, ANOVA, and t-tests.

Main Results:

  • The overall prevalence of ARD was 35% (SoV), with specific prevalences of 41% at the AVA and 30% at the STJ.
  • MPS IVa showed the highest prevalence of ARD at 87.5%.
  • No significant difference in aortic root z-scores was found between treated (HSCT or ERT) and untreated MPS patients.

Conclusions:

  • A significant proportion of MPS patients exhibit aortic root dilatation, highlighting the need for cardiovascular monitoring.
  • The study recommends routine screening for ARD in all patients diagnosed with MPS.
  • Current treatments (HSCT, ERT) did not show a significant impact on aortic root dimensions in this cohort.
Keywords:
aortic root dilatationechocardiogramenzyme replacement therapymucopolysaccharidosisz-scores

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