Revisión bibliográfica y presentación de un caso: síndrome de marfán

Abstract

Marfan syndrome is a rare disease, caused by a genetic mutation of fibrillin-1, essential for the synthesis of connective tissue elastic fibers. It is characterized by a high penetrance and a marked phenotypic heterogeneity. Among the different clinical manifestations, cardiovascular involvement deserves a special consideration because of their impact on prognosis. The diagnosis requires a complete medical evaluation of multiple organs and systems; with expanded symptoms where the decision making is complex, so when Marfan syndrome is suspected should be applied the revised criteria of Ghent. If the diagnosis is confirmed, it must start early with its multidisciplinary approach carefully monitored because there are pharmacological and surgical treatments that improve life expectancy. Finally a case is reported, with the review of clinical manifestations, diagnostic criteria and management