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- Title
A Rare Disease: Mucopolysaccharidosis Type 6 and Cardiac Involvement: Case Report.
- Authors
GÜVENÇ, Osman; ÇİMEN, Derya; ARSLAN, Derya; ASLAN, Eyüp; ORAN, Bülent
- Abstract
Mucopolysaccharidosis type 6, also known as Maroteaux-Lamy syndrome, is a rare, multisystemic, progressive disease characterized by somatic involvement of varying severity and normal intelligence. N-acetylgalactosamine-4-sulfatase enzyme is lacking and disfunction at cell, tissue, and organ levels occurs due to dermatan sulfate accumulation. Besides the findings such as coarse facial appearance, hydrocephalus, dysostosis multiplex, corneal opacity, hepatosplenomegaly, and joint stiffness, cardiac involvement is also frequently observed. Valvular heart disease, cardiomyopathy, and arrhythmia may occur in patients. In this article, we presented and discussed a mucopolysaccharidosis type 6 patient having moderate mitral valve regurgitation together with dextrocardia as a case in the light of recent literature.
- Subjects
MAROTEAUX-Lamy syndrome; HEART valve diseases in children; AORTIC valve insufficiency treatment; DISEASE progression; ECHOCARDIOGRAPHY
- Publication
Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2015, Vol 24, Issue 4, p169
- ISSN
1300-0381
- Publication type
Case Study
- DOI
10.5336/pediatr.2015-47228