P44 Heart pathology in patients with syndrome maroto-lamy

Background MucopolysaccharidosistypeIV (syndromeMaroto-Lamy) is a rare lysosomalstorage disorder resulting from a deficiency of arylsulfataseB due to mutations in the gene ARSB and accumulation of dermatansulfate in organs and tissues. Clinical phenotype is very variable. Patients usually have short stature, multiplex dysostosism, facial dysmorphism, corneal clouding, cardiovascular abnormalities and cervical myelopathy. Methods 117 patient with various types of mucopolysaccharidosisis observed in our clinic, 8 patients with mucopolysaccharidosistype VI. The average age of diagnostic of MPS VI in this group patients was 65.43±14,64 months (5 years and 5 months). Results and discussion We evaluated the level of N-terminal fragment of its prohormone(NT-proBNP) in 30 patients with various types of MPS (23 boys and 7 girls). The reference values for boys was ≤ 62 PG/ml for girls - ≤ 83 PG/ml, mean level of NT-proBNP- 81,63±8,90 (24,53–216,0) PG/ml. the Most frequent, in 66.6% of cases, high level of NT-proBNP- 144.7±42,6 (102,1–187,3) PG/ml, was identified in children with Maroto- Lamysyndrome. We observed 8 children with MPS VI, all patients had valvularheart disease. Hypertrophic cardiomyopathy was find in 5 children, pulmonary hypertensionwas diagnosed in 3 patients. Most often, heart failure we have found in patients with Maroto-Lamysyndrome. Patients with MPS VI is progressive heart disease, which is the most cause of death. Heart failure diagnostic in the initial stages is very important for adequate therapy of hemodynamics disorder and prevent its further progression of cardiovascular problems. NT-proBNPis cardiac biomarker for heart failure management. NT-proBNPis a one of the most predictors of prognosis HF, it help to identify high-risk patients who need cardiologic monitoring and more effective therapy.