Marfan Syndrome and Other Genetic Aortopathies

Aortic dissection or rupture is a rare event in athletes, yet when it does occur, it is frequently fatal. Like the heart, the aorta is exposed to the extremes of hemodynamic stress with exercise and likely adapts, although in young athletes, these changes are usually subtle and the aortic size stays generally within population-based normal ranges. For certain high-risk groups, the hemodynamic stress of exercise may exceed the strength of the vulnerable aorta and result in dissection. Therefore, identification of those at risk for such an occurrence is of paramount importance. Screening for known connective tissue disorders, in particular Marfan Syndrome, is a standard component of most sporting pre-participation evaluations. If identified, advice on sport participation in those with aortopathy is based largely on expert opinion. This chapter reviews issues pertaining to the athlete with aortopathy.