Marfan Syndrome

Whenever I watch a high school or college basketball game I am awed by the players' level of endurance and physical conditioning. I am breathing hard after a 1-2 mile jog and can only imagine having the ability to play an entire basketball game! Realizing the peak aerobic condition of these athletes, you would never imagine an athlete's sudden death due to cardiac failure.

A couple of weeks ago there was a news report of a basketball player in South Carolina having collapsed and died on the court. Periodically you hear similar reports regarding other athletes at various institutions. It is strongly suspected that in some of these incidences, the player may have had a genetic condition that caused this sudden death.

Marfan syndrome is an autosomal dominant condition that occurs in 1/10,000 to 1/20,000 North Americans. It is caused by mutations in a gene located on chromosome 15 whose function is to code for fibrillin, a connective tissue protein.

Marfan syndrome is characterized by defects in the eyes, skeleton and cardiovascular system of the body. Many patients suffer from nearsightedness and a detached lens. The skeletal system is greatly affected with patients having extremely long limbs, tall stature, joint hypermobility and curvature of the spine. Sudden, premature death can occur from cardiac failure due to aortic rupture.

There is no cure for Marfan syndrome, but treatment focuses on preventive measures. Regular ophthamological exams are encouraged as well as avoidance of heavy exercise and contact sports. Medications are used to decrease the force of heart contractions and sometimes prophylactic replacement of the aorta and aortic valve is recommended.

Patients with Marfan syndrome have a 50% risk of having a child with this same syndrome. A number of famous individuals are thought to have had Marfan syndrome. This list includes the composer and pianist, Sergei Rachmaninoff, the violinist, Paganini and a very famous American president, Abraham Lincoln.