Original Article

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

10.4274/jpr.21548

  • Ebru Canda
  • Melis Köse
  • Mehtap Kağnıcı
  • Meral Dondurmacı
  • Sema Kalkan Uçar
  • Eser Sözmen
  • Reşit Ertürk Levent
  • Mahmut Çoker

Received Date: 07.10.2018 Accepted Date: 17.10.2018 J Pediatr Res 0;0(0):0-0 [e-Pub]

Aim:

Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). In this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis (transforming growth factor β-TGF-β, interleukin-IL 6, IL 10, high sensitive C reactive protein-hs CRP, vascular endothelial growth factor-VEGF, N-terminal pro- Natriuretic peptide-NT-proBNP) and clinical, laboratory and echocardiographic findings of the patients.

Materials and Methods:

A total of 37 patients (5 MPS I, 4 MPS II, 2 MPS IIIa, 4 MPS IIIb, 14 MPS IVa, 8 MPS VI) and 32 controls with similar age and sex were included in the study.

Results:

Corneal clouding was seen in 29(78%) patients. There were 23 (62%) patients with organomegaly, and 28 (75%) patients with hearing loss. When the groups were compared in terms of NT-proBNP, hsCRP, TGF-β, IL6, IL10 and VEGF levels, there was a statistically significant increase in the patient group for NT-proBNP and VEGF (p = 0.04, p = 0.03, respectively). The carotid intima media thickness was statistically significantly higher in the patient group (p <0.001). Left ventricular diastolic diameter was significantly higher in the patient group (p = 0.009), intraventricular septum thickness was significantly higher in the patient group (p <0.001). E/A ratio was significantly lower in the patient group (p <0.001).

Conclusion:

Cardiac involvement in MPS patients is a major cause of mortality and morbidity. It is thought that cytokines, proinflammatory markers are elevated in patients with vascular damage like other lysosomal diseases. There is a need for further studies to determine biomarkers for vascular involvement.

Keywords: Mucopolysaccharidoses, carotis intima media thickness, vascular involvement, cytokines