Osman BAŞPINAR, Ayşe SÜLÜ, Derya AYDIN ŞAHİN

FBLN 4 mutasyonuna bağlı dev çıkan aort anevrizması: olgu serisi

“Cutis laxa” tip1B ender görülen FBLN 4 mutasyonunun neden olduğu, ön planda damar anomalileri ile seyreden otozomal çekinik bir hastalıktır. Burada aynı ailenin üyesi olan beş olgumuzu sunduk. Olgularımızın asıl kalp bulgusu çıkan aort anevrizması idi. Bir olgumuz 2,5 yaşında çıkan aorttaki dev anevrizmanın trakea, bronşlar ve kalp odacıklarına basısı nedeni ile kaybedildi. Üç olgumuza Bentall operasyonu yapıldı ve izlemleri devam etmektedir. Bir olgumuz halen klinik olarak izlemdedir. İlk olgunun tanı almasından sonra genetik çalışması yapıldı ve FBLN 4 mutasyonu saptandı. Aile taraması sırasında belirtisiz dört olgu daha saptandı. Yoğun akraba evliliklerinin olduğu ailenin taranabilen 29 üyesinde fizik bakı ve ekokardiyografik incelemelerde sorun saptanmadı. Aile ağacının çıkarılması, belirtisi olmayan bireylerde genetik hastalıkların erken tanısı açısından önemlidir.

Giant aortic aneurysm due to fibulin- 4 deficiency: case series

Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. One 2.5-year-old patient with a massive aneurysm of the ascending aorta died as a result of compression to the heart chambers, trachea, and bronchi. A Benthall operation was performed in three of our patients who are under follow-up. One patient is still under clinical follow-up without surgery. After the diagnosis of the first patient, a genetic study was performed in which FBLN 4 mutations were investigated. Four new patients were detected during genetic screening of the family. Other 29 family members were screened bur were negative in physical examinations and echocardiography. Pedigree is important for early diagnosis of genetic diseases in asymptomatic individuals.

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