Yüksel ATAY, Çağatay BİLEN, Gökmen AKKAYA, Osman Nuri TUNCER, Mehmet Fatih AYIK

Baraitser-Winter sendromlu erişkin bir hastada Bentall prosedürü deneyimimiz

Baraitser-Winter sendromu, sitoplazmik aktin kodlayan gen defektinin neden olduğu, oldukça nadir bir genetik bozukluktur. Pek çok hasta benzer fenotipe sahip olmasına rağmen, eşlik eden kalp anomalileri çeşitlidir. İyi tarif edilmiş doğuştan kalp hastalıklarının yanı sıra, ileriki yıllarda altta yatan aktin gen mutasyonuna bağlı olarak, bu hastalarda aort anevrizmaları görülebilir. Bu yazıda, yeni gelişen aort kapak yetmezliği ve çıkan aort anevrizması tanısıyla Bentall prosedürü yapılan 26 yaşında bir erkek olgu sunuldu.

Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome

Baraitser-Winter syndrome is a very rare genetic disorder causedby cytoplasmic actin-encoding genes defects. Although mostpatients have similar phenotype, concomitant cardiac anomalieswidely vary. In addition to well-described congenital heartdiseases, aortic aneurysms occur due to underlying actin genemutation in these patients in the further years. Herein, we presenta 26-year-old male case who underwent Bentall procedure withthe diagnosis of new-onset aortic valve regurgitation and anascending aorta aneurysm.

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