Marfan syndrome (MFS) is an autosomal dominant hereditary disease mainly caused by mutations in the fibrillin-1
) gene. It is characterized by the occurrence of thoracic aortic aneurysm and/or dissection, ectopia lentis
, and systemic abnormalities.1
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.2
The clinical diagnosis of MFS may be established by the revised Ghent nosology,3
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.2,4
Even though MFS is a rare condition (1:5,000),1
its prevalence is speculated to be much higher among individuals participating in sports, especially those sports in which tall stature and long limbs are advantageous. One such example is volleyball,5
which is classified as a moderate dynamic and low static sport.6
Studies on the practice of competitive sports by individuals with borderline or evident aortic root dilation are limited. Therefore, it becomes necessary to evaluate the differential diagnosis of MFS or any evident systemic disease.
In this context, the present study describes the case of a volleyball athlete with a possible diagnosis of MFS. The athlete and his guardian signed both agreement and informed consent forms. The research was approved by the Research Ethics Committee at Universidade do Estado de Santa Catarina
Marfan Syndrome; Aortic Rupture; Cardiovascular Diseases; Athletes; Exercise; Aortic Diseases.