Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

Abstract

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

Mucopolisacaridosis: generalidades y compromiso cardiovascular

“…En la porción epicárdica de estos vasos, el depósito de GAG en la capa íntima induce una proliferación difusa con obliteración progresiva de la luz del vaso, provocando isquemia miocárdica. Algunos estudios sugieren, además, el desarrollo temprano de aterosclerosis 13 . En los pacientes con MPS de los tipos II y VI se ha descrito también una oclusión progresiva de las arteriolas coronarias, especialmente en la región apical del ventrículo izquierdo, que lleva a la formación de aneurismas.…”

Early Prediction of Asymptomatic Cardiac Insult in Pediatric Patients with Lysosomal Storage Diseases

“…Cardiovascular involvement a major source of death and morbidity among MPS patients as well as other LSDs. There is an increasing need to develop novel noninvasive means of early prediction of potential cardiac involvement in patients with LSDs [4][5][6][7][8].…”