Homozigot D409H Mutasyonlu Gaucher Hastasında Arkus Aorta, Aort ve Mitral Kapak Kalsifikasyonu; Olgu Sunumu

Öz

Giriş: Gaucher Hastalığında kardiyovasküler tutulum nadirdir. Aort ve mitral kapakkalsifikasyonu bulunan Gaucher hastalarında homozigot D409H nokta mutasyonutanımlanmıştır. Olgu Sunumu: Bu yazıda; Gaucher hastalığı tanısı ile izlenmekte iken önemli mitralaort kapak ve aorta kalsifikasyonu gelişen, korneal tutulumlu, homozigot D409Hmutasyonlu, iki kardeşinde kalp kapak hastalığı öyküsü bulunan, enzim replasmantedavisi 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

Anahtar Kelimeler

• Gaucher hastalığı,kalp,kalsifikasyon

Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report

Abstract

Introduction: Cardiovascular involvement in Gaucher disease is infrequent. D409H pointmutation 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, havinghomozygous D409H point mutation is presented, who has mitral-aortic valve andaortic calcifications with corneal involvement. Her two siblings also had diedaccording to valvular heart disease. Because of having high cardiovascular surgeryrisk, 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 inGaucher disease

Keywords

• Gaucher disease,heart,calcification

Kaynakça

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