A rare disease: Mucopolysaccharidosis type 6 and cardiac involvement: Case Report Nadir Görölen Bir Hastalik: Mukopolisakkaridoz Tip 6 ve Kalp Tutulumu
Turkiye Klinikleri Pediatri, cilt.24, sa.4, ss.169-172, 2015 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 24 Sayı: 4
- Basım Tarihi: 2015
- Doi Numarası: 10.5336/pediatr.201547228
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.169-172
- Anahtar Kelimeler: Child, Heart valve diseases, Mucopolysaccharidosis VI
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.