Marfan Sendromu: Olgu Sunumu

Marfan sendromu (MFS), otozomal dominant geçiþli baþlýca kardiyovasküler, oküler, kas-iskelet ve sinir sistemlerini etkileyen bir bað dokusu bozukluðudur. MFS’lu olgularýn %66-91’inde 15. kromozomdaki fibrillin -1 (FBN1 ) gen mutasyonu saptanmýþ olmakla beraber, olgularýn %27’si yeni mutasyonlardan kaynaklanýr. Yetiþkinlerde klinik taný Ghent kriterlerine göre yapýlmalýdýr. Erken taný, aortu koruyucu medikal ve cerrahi tedaviler ve düzenli takip ciddi komplikasyonlarýn önlenmesine veya geciktirilmesine yardým eder. Otuz yaþýnda pürülan kanlý balgam, ateþ ve terleme þikayetleri olan Marfan sendromu tanýsý koyduðumuz olgumuzu sunduk.

Marfan Syndrome: A Case Report

Marfan syndrome (MFS) is a connective tissue disorder inherited by autosomal dominant pattern that affects primarily cardiovascular, ocular, musculoskeletal and nervous systems. Even though, mutation in the fibrillin-1 gene (FBN1) located on Chromosome 15 was detected in 66-91% in the case with MFS, 27% of the cases were caused by novel mutations. The clinical diagnosis in adults is established according to Ghent Criteria. Early diagnosis, aortic valve-sparing medical and surgical treatments, and regular patient follow-up are helpful in preventing and delaying serious complications. In this case report, we have presented a 30-year-old case who admitted to the hospital due to the complaints of purulent bloody sputum, fever and sweating, and was diagnosed with Marfan syndrome.

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