Arcus aorta, aortic and mitral valve calcifications in a patient with gaucher's disease homozygous for the D409H mutation; case report Homozigot D409H mutasyonlu gaucher hastasinda arkus aorta, aort ve mitral kapak kalsifikasyonu; olgu sunumu

BAYKAN A., Onan S. H., Sezer S., Kardas F., Kendirci M., ARSLAN D., ...Daha Fazla

Guncel Pediatri, cilt.9, sa.1, ss.44-46, 2011 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 1
  • Basım Tarihi: 2011
  • Dergi Adı: Guncel Pediatri
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.44-46
  • Erciyes Üniversitesi Adresli: Evet

Özet

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. © The Journal of Current Pediatrics.