A rare disease: Mucopolysaccharidosis type 6 and cardiac involvement: Case Report [Nadir Görölen Bir Hastalik: Mukopolisakkaridoz Tip 6 ve Kalp Tutulumu]
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkiye Klinikleri
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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. © Copyright 2015 by Turkiye Klinikleri.
Açıklama
Anahtar Kelimeler
Child, Heart valve diseases, Mucopolysaccharidosis VI
Kaynak
Turkiye Klinikleri Pediatri
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
24
Sayı
4
