News that a Marfan syndrome diagnosis would cut short the NBA dreams of former Baylor center Isaiah Austin shocked the sports world this weekend. But just what is Marfan syndrome, and how could it end the career of a world-class athlete just as it was beginning?
Austin's road to discovering his Marfan diagnosis began with the simple physicals players are expected to undergo prior to being drafted by an NBA team. Austin went in for a routine EKG. That test revealed an abnormality in Austin's metrics, and further testing revealed that Austin has Marfan syndrome. Just what does that mean?
What Is Marfan?
Marfan syndrome is a genetic disorder affecting the body's connective tissue. According to the Marfan foundation, the disorder hinges on a defect in the genes controlling production of a protein called fibrillin-1. People with Marfan produce more of a protein called transforming growth factor beta, causing problems in connective tissues throughout the body. Marfan can affect multiple organ systems, since connective tissues are found all through the body.
How Do You Get It?
Marfan syndrome is a genetic disorder, meaning it's not contagious. About 1 in 5,000 people have Marfan syndrome, and Marfan affects people across all races and ethnic groups. Three out of four people to develop Marfan will inherit it from a parent, but some will spontaneously develop the disorder. If a person has Marfan, there is a 50 percent chance that they'll pass along the mutation when they have a child.
Is It Deadly?
Depending on where the syndrome manifests, Marfan can in fact be life-threatening. That's why Austin's basketball career had to be cut short. Since the connective tissues Marfan attacks are found throughout the body, Austin's cardiac health was at risk, as well as the health of other systems in his body. Aortic enlargement is a possible side effect of Marfan, and the disorder can also affect the lungs, skin, and nervous system.
Is There A Cure?
Unfortunately, there is no cure for Marfan syndrome. The condition can be treated, though, and the Marfan Foundation says that those with the disorder can still live long, full lives, so long as they properly manage the condition.
A Marfan diagnosis will mean routine doctor appointments in order to keep track of one's symptoms. Should symptoms progress at an undesirable rate, a doctor may recommend surgery to address Marfan-related issues. Marfan affects a number of different systems in the body, though, so those with the condition will have to keep watch over the health of their hearts, bones, nervous systems, eyes, lungs, and teeth.
What Are The Symptoms?
As Marfan is a genetic disorder, its symptoms become apparent as a person born with the syndrome ages. The Mayo Clinic says that the signs and symptoms of Marfan can vary greatly, even between members of the same family. There are, though, some common indicators:
- Tall and slender build
- Disproportionately long arms, legs, fingers, and toes
- A breastbone that protrudes outward or dips inward
- A high, arched palate and crowded teeth
- Heart murmurs
- Extreme nearsightedness
- An abnormally curved spine
- Flat feet
If you think you, your child, or someone else you know may have Marfan syndrome, it's best to talk to a doctor. If the doctor suspects a problem, they can refer you on to a specialist for testing and treatment.
For more information on Marfan, please visit the Marfan foundation, which has a wealth of info on getting diagnosed, treatment, resources, and related disorders.