Recently, Baylor basketball star and Arlington native Isaiah Austin made headlines when his NBA dreams were dashed after a standard physical revealed a diagnosis of Marfan syndrome.

“They said I wouldn’t be able to play basketball no more, at a competitive level.” Austin told ESPN “…They told me my arteries and my heart are enlarged, and that if I overwork myself or push myself, my heart could rupture.”

So what is Marfan syndrome?

Credit: Kevin Jairaj-USA TODAY Sports

Marfan syndrome is a rare genetic disorder caused by a mutation in the gene that controls how the body makes fibrillin-1, a major protein in your body’s connective tissue. It usually affects the connective tissue in the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Connective tissue helps support all the parts of your body, and any abnormalities can affect your growth and development, and can even be life threatening.

This condition is inherited in an autosomal dominant pattern, which means only one copy of the altered gene is needed to cause the disease. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children.

At least 25 percent of Marfan syndrome cases cases occur in people with no history of the disorder in their family.
These cases result from a new mutation in the fibrillin-1 gene (FBN1).

The signs and symptoms of Marfan syndrome vary widely in severity, age of onset, and rate of progression. One of the primary characteristics are vision problems caused by a dislocated lens in one or both eyes (ectopia lentis). Another major characteristic is defects in the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). Abnormalities in the connective tissue cause the aorta to weaken and stretch. Too much stretching can cause an aneurysm (a bulge in the blood vessel wall) or can cause the aortic valve to leak, leading to an aortic dissection (the sudden tearing of layers in the aorta’s wall). Both aortic aneurysms and dissections can be deadly.

Additional heart problems are also common with Marfan syndrome, including leaks in other valves of the heart. These leaks can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations).

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Marfan syndrome frequently affects the long bones of the body, causing affected individuals to be tall and slender with long and narrow faces, elongated fingers and toes, and have an arm span that exceeds their body height. Other signs include a spine that curves abnormally (scoliosis or kyphosis), a chest that sinks in or sticks out (pectus excavatum and pectus carinatum, respectively), teeth that are too crowded, and flat feet.

Some affected people develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia), which can cause pain in the back, abdomen, legs, or head. Most individuals have some degree of nearsightedness (myopia), and clouding of the lens (cataract) and increased pressure within the eye (glaucoma) occur more frequently in people with Marfan syndrome than in those without the condition.

Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition display many traits, while others display few.

About 1 out of every 5,000 people in the world has Marfan syndrome, and it can affect people of all sexes and races.

Marfan syndrome has no cure, but treatments, including medicines, surgery, and other therapies, can help delay or prevent complications. Limiting certain activities, or changing how you do them, may also help reduce the risks of complications for the aorta, eyes, and joints. The type of treatment you receive depends on how the condition is affecting your body.

Advances have been made in the early diagnosis and treatment of Marfan syndrome. It’s now possible for people who have the condition to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.

Research continues for better a understanding of and treatments for Marfan syndrome.