Duran ARSLAN, Nazmi NARİN, Kazım ÜZÜM, Sadettin SEZER, Sertaç Hanedan ONAN, Ertuğrul MAVİLİ, Fatih KARDAŞ, Ali BAYKAN, Mustafa KENDİRCİ

Homozigot D409H mutasyonlu Gaucher hastasında arkus aorta, aort ve mitral kapak kalsifikasyonu; Olgu sunumu

Giriş: Gaucher Hastalığında kardiyovasküler tutulum nadirdir. Aort ve mitral kapak kalsifikasyonu bulunan Gaucher hastalarında homozigot D409H nokta mutasyonu tanımlanmıştır. Olgu Sunumu: Bu yazıda; Gaucher hastalığı tanısı ile izlenmekte iken önemli mitralaort kapak ve aorta kalsifikasyonu gelişen, korneal tutulumlu, homozigot D409H mutasyonlu, iki kardeşinde kalp kapak hastalığı öyküsü bulunan, enzim replasman tedavisi altında izlenmekte olan ve kardiyovasküler cerrahi için yüksek riskli bulunan 17 yaşında kız hasta sunulmuştur. Tartışma: Gaucher Hastalığı’nda nadir görülen, ancak yaşam belirleyici olan kardiyovasküler tutuluma ve bu olguların korneal opasite ve D409H mutasyonu birlikteliğine dikkat çekilmiştir. (Güncel Pediatri 2011; 9: 44-6)

Arcus aorta, aortic and mitral valve calcifications in a patient with Gaucher’s disease homozygous for the D409H mutation; Case report

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)

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