Abstract
Introduction Marfan syndrome (MFS) is an autosomal dominant hereditary disease mainly caused by mutations in the fibrillin-1 (FBN1) gene. It is characterized by the occurrence of thoracic aortic aneurysm and/or dissection, ectopia lentis, and systemic abnormalities. The highest risk of death associated with the syndrome is attributed to cardiovascular abnormalities, in particular, progressive aortic root aneurysm, leading to aortic dissection and rupture if not corrected surgically. The clinical diagnosis of MFS may be established by the revised Ghent nosology, although [...]
Highlights
Marfan syndrome (MFS) is an autosomal dominant hereditary disease mainly caused by mutations in the fibrillin-1 (FBN1) gene
The clinical diagnosis of MFS may be established by the revised Ghent nosology,[3] this can be challenging, since many characteristics of this disease are dependent on the age of the patient, while others are frequently seen in the general population, with substantial phenotypic variability
The present study describes the case of a volleyball athlete with a possible diagnosis of MFS
Summary
Fabrissio Portelinha Graffunder,[1] Sabrina Weiss Sties,[2] Ana Inês Gonzáles,[1] Tales de Carvalho[3]. Universidade Federal de Santa Catarina (UFSC);[1] Faculdade Avantis;[2] Universidade do Estado de Santa Catarina (UDESC),[3] Florianópolis, SC – Brazil
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