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Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

Raymond Y Wang1,2, Kyle D Rudser3, Donald R Dengel4

  • 1Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA, USA. rawang@choc.org.

Orphanet Journal of Rare Diseases
|March 19, 2020
PubMed
Abstract

Insights

Cardiovascular disease is common in mucopolysaccharidoses (MPS). This study found Morquio A disease (MPS IVA) patients have increased carotid intima-media thickness and unexpected carotid hyperelasticity, suggesting unique vascular involvement.

Area of Science:

  • Vascular biology
  • Rare genetic disorders
  • Cardiology

Background:

  • Cardiovascular disease is a major cause of mortality in mucopolysaccharidoses (MPS).
  • Cardiovascular anatomy and dysfunction in MPS IVA (Morquio A disease) are not well characterized.
  • Understanding vascular changes in MPS IVA is crucial for patient management.

Purpose of the Study:

  • To compare carotid artery structure and elasticity in MPS IVA patients versus other MPS patients and healthy controls.
  • To quantify cardiac structural and functional abnormalities in MPS IVA.
  • To elucidate the specific vascular pathology in Morquio A disease.

Main Methods:

  • Prospective, multi-center study involving echocardiogram and carotid ultrasound.
  • Evaluated 12 patients with Morquio A disease, compared with other MPS patients and healthy controls.
  • Statistical analysis adjusted for age, sex, and height using robust variance estimation.

Main Results:

  • MPS IVA patients showed significantly increased carotid intima-media thickness (cIMT) compared to controls.
  • MPS IVA patients exhibited significantly greater carotid elasticity than controls and other MPS patients.
  • Aortic root dilatation and mitral/aortic valve thickening were prevalent, though significant valve dysfunction was less common.

Conclusions:

  • MPS IVA patients display increased cIMT and paradoxical carotid hyperelasticity, contrasting with other MPS types.
  • Aortic root dilatation suggests arterial elastin dysfunction, while carotid hyperelasticity points to the role of proteoglycans in vascular health.
  • Further research using MPS I and IVA models may clarify the role of glycosaminoglycan-bearing proteoglycans in arterial function.
Keywords:
Cardiovascular diseaseCarotid ultrasoundIntima media thicknessMorquio A diseaseMucopolysaccharidosis IVA

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