What is Marfan syndrome, and why it is dangerous for Isaiah Austin?

A few days ago, the NBA dreams of one promising prospect ended before they really began, when Baylor big man Isaiah Austin retired from basketball after learning he had Marfan syndrome. To get a better understanding of what exactly Marfan syndrome is, why it is dangerous for athletes, and what happens for Austin next, we reached out to Carolyn Levering, the CEO of The Marfan Foundation, a non-profit organization that researches Marfan syndrome, and helps educate others on the disorder.

What exactly is Marfan syndrome?

Marfan syndrome is a life threatening genetic disorder that affects the body's connective tissue, which is throughout the body, and helps regulate how we grow. Some of the features are easier to see, like long arms, long legs, long fingers. Usually, but not always, this means a tall and thin body type. It could mean a curved spine, a sunken in chest, and flexible joints. Sometimes, Marfan can cause unexplained stretch marks on the skin as well.

What's harder to detect are the heart issues, especially issues related to the aorta. The aorta is the large blood vessel that carries blood away from the heart, and with Marfan, it has a danger of rupture. Marfan can also bring about a sudden collapse of the lung, or serious eye problems, like detached retinas (Note: Isaiah Austin infamously suffered a detached retina while playing high school basketball). Frequently, eye doctors are actually a point in diagnosis.

If Marfan was not diagnosed and treated, what could happen?

There would be a risk of aortic dissection, which could kill you. This happened with Flo Hyman, a U.S. Olympic volleyball player, who was untreated and died on the sidelines of a match. Hyman did not know she had Marfan syndrome.

Somebody who has undetected Marfan syndrome is at risk for sudden death.

What does that detection process look like? Can it be spotted easily?

First, a doctor would need to notice enough of the characteristics and be suspicious enough to send the patient to get an echocardiogram, to get a better look at the heart. An eye exam and specific orthopedic measurements may also be involved. Because the syndrome impacts multiple body systems, it is important to have something beyond an EKG to verify if somebody has Marfan syndrome.

In the case of Isaiah Austin, it appears he was sent in for a genetic test. We are fortunate today that there is genetic testing, which can be a complement to the clinical exam.

Do the NCAA (or NBA) help educate and diagnose those with the disorder?

We've done mailing to coaches and physical education teachers to help educate, and we've worked with the National Federation of High School Athletic Associations, and with the National Athletic Trainers Association. We encourage our members to reach out to their schools to make sure that they prescreen their athletes. We would value the opportunity to partner more fully with organizations that are responsible for athletes, screening them before they enter school sports, or professional sports.

In the case of Isaiah Austin, a really savvy doctor took the necessary steps, and his life was probably saved. We see our job now is to seek further partnerships to make sure that all athletes, from middle school, high school, college or professionals, are not placed at risk, since this is something that can be identified and managed. We are concerned that nearly half the people who have Marfan syndrome don't know it.

Are you aware of any specific requirement in the NCAA that would require the school to test for Marfan?

That would vary from school to school.

Recently Jeff Green and Ronny Turiaf have had heart surgeries and been able to play again. Is that possible in this case?

Well, an affected individual would need to be in the care of at least one, if not multiple specialists who are familiar with Marfan syndrome. There will be eye involvement, lung involvement, and they'll need to be working with a cardiologist and a geneticist. There are medications available that they should be considering, and there are surgical options. Obviously, lifestyle adaptations are also a part of life after diagnosis.

It's important to point out that 40 years ago, people were dying in their 30s and 40s from Marfan. Now, people can live into their 70s, but that is only if they are taking their medications, looking at surgical options, and making the proper lifestyle adaptations. This is why early diagnosis is so important. If somebody isn't diagnosed, they may as well be living in 1940, before we had open heart surgery.

In terms of whether somebody could go back to an active lifestyle after a surgery, it's important to remember that with Marfan, and many other related disorders, the entire aorta is at risk. Even if there is a surgery that can help repair a part at risk for a tear, the entire aorta is still affected, and they will need to have medication to slow the enlargement. It's possible that additional surgery may be needed down the road.

So this isn't something you can just fix and have it over with then?

That's correct.

Knowing all of that, while it is obviously tragic that Isaiah Austin, or anybody else diagnosed at a similar time, will not be able to pursue a career as a professional basketball player, it is excellent news that the disorder was caught at all, since it likely saved his life.

Here is hoping that Austin's experience can be a catalyst for other athletes, including basketball players, to take the necessary medical precautions to make sure they are healthy enough to play.

Matt Brown is the Assistant League Manager for SB Nation College Sports. His sister, Maya, has Marfan and is a member of the board of directors at The Marfan Foundation. For more information, please visit here.