An interesting case of Marfan syndrome with severe cardiovascular complications

Written by Germán-Salló Márta, Bálint-Szentendrey Dalma, Dósa Géza, Szabó Mónika, Preg Zoltán, Şandor-Tătar Cristina, Baloş Sorin

Marfan syndrome is a genetic disease of the connective tissue with autosomal dominant mode of transmission involving several systems: osteoarticular, ocular, cardiovascular, respiratory, skin, dura mater. It is a relatively rare disease with a prevalence of 1/7000-10000). Aortic involvement can lead to sudden death. We present the case of a patient with Marfan syndrome: diagnosis, treatment, particularities of the case. In our 33 years old female patient we established the Marfan syndrome diagnosis based on the Ghent criteria. Particularities of the case: at first sight our patient didn’t seem to have the characteristic Marfan constitution –tall and long, thin extremities-, and the indication for surgery was double, because of the dilated aorta and the severe mitral regurgitation. Conclusion: Marfan syndrome is a rare disease with difficult diagnosis, some of the clinical signs being obvious others needing special investigations. Early diagnosis and family screening of relatives of first degree are important.


Keywords: Marfan syndrome, Ghent criteria, cardiovascular complications, indication for surgery, the particularity of the case

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