International Journal of Cardiovascular Sciences. 01/Apr/2017;30(2):181-4.
Differential Diagnosis of Marfan Syndrome in a Teenage Volleyball Athlete
DOI: 10.5935/2359-4802.20170036
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 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. In addition, MFS has considerable overlap with other connective tissue diseases.,
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