TITLE

Homozigot D409H Mutasyonlu Gaucher Hastas›nda Arkus Aorta, Aort ve Mitral Kapak Kalsifikasyonu; Olgu Sunumu

AUTHOR(S)
Baykan, Ali; Onan, Sertaç Hanedan; Sezer, Sadettin; Kardaş, Fatih; Kendirci, Mustafa; Arslan, Duran; Mavili, Ertuğrul; Üzüm, Kazım; Narin, Nazmi
PUB. DATE
April 2012
SOURCE
Journal of Current Pediatrics / Guncel Pediatri;Apr2012, Vol. 10 Issue 1, p44
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Introduction: Cardiovascular involvement in Gaucher disease is infrequent. D409H point mutation has been defined in patients with aortic and mitral valve calcifications.Case Report: In this case report, a 17 year-old girl with Gaucher disease, having homozygous D409H point mutation is presented, who has mitral-aortic valve and aortic calcifications with corneal involvement. Her two siblings also had died according to valvular heart disease. Because of having high cardiovascular surgery risk, she is under enzyme replacement therapy. Conclusion: We aimed to point out the rare but important and vital prognostic cardiovascular involvement associated with corneal opacity and D409H mutation in Gaucher disease. (Journal of Current Pediatrics 2011; 9: 44-6)
ACCESSION #
88062097

 

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