Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

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Aim: Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). In this study, we investigated the effects ofthe markers involved in vascular endothelial injury pathogenesis [transforming growth factor β- (TGF-β)], interleukin-6 (IL-6), IL-10, highsensitive-C reactive protein (hs-CRP), vascular endothelial growth factor (VEGF), N-terminal pro-Natriuretic peptide (NT-proBNP) and theclinical, 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 ageand 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 withhearing loss. When the groups were compared in terms of NT-proBNP, hs-CRP, TGF-β, IL-6, IL-10 and VEGF levels, there was a statisticallysignificant increase in the patient group for NT-proBNP and VEGF (p=0.04, p=0.03, respectively). The carotid intima media thickness wasstatistically significantly higher in the patient group (p<0.001). The left ventricular diastolic diameter was significantly higher in the patientgroup (p=0.009), intraventricular septum thickness was significantly higher in the patient group (p<0.001). The E/A ratio was significantlylower 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, proinflammatorymarkers are elevated in patients with vascular damage like other lysosomal diseases. There is a need for further studies to determinebiomarkers for vascular involvement.