Medical Minute: Marfan Syndrome

Baylor men’s basketball standout Isaiah Austin will not realize his dream of playing for the NBA.

Austin has been diagnosed with Marfan syndrome, a genetic disorder that causes connective tissue problems due to fibrin weakness. People with Marfan’s tend to be tall, with lanky arms and legs. They may also suffer heart defects and serious problems with their lungs and eyes.

Baylor’s website cited an enlarged aorta as the reason Austin has decided to forego playing for the NBA. He would not have passed the NBA’s cardiovascular screening.

As a high school hoops star, Austin was heavily recruited by top colleges. He says he withheld the fact that he was playing with a prosthetic eye from all college recruiters except Baylor.

Austin lost his right eye as a result of Marfan Syndrome. He suffered a detached retina in his left eye, but he was still able to play in 73 games for Baylor.

“His health is the most important thing, and while it’s extremely sad that he won’t be able to play in the NBA, our hope is that he’ll return to Baylor to complete his degree and serve as a coach in our program,” read the statement on Baylor’s website.

1 in 5,000 people will be diagnosed with Marfan Syndrome. If a child inherits Marfan’s from either parent, he can pass on the gene to his children.

Signs and symptoms

People with Marfan Syndrome are usually tall with lanky arms and legs. They have long, thin fingers and toes. Detached retinas in the eyes, curvatures of the spine and sternum protrusion or sunken chests are common problems.

Other signs and symptoms include:

  • Cleft palate
  • Abdominal indentation
  • Joint pain
  • Muscle pain
  • Back pain
  • Abdominal pain
  • Headaches
  • Flat feet, hammer toes
  • Astigmatism
  • Visual disturbances
  • Detached retinas
  • Scoliosis, poor posture
  • Pneumothorax (air trapped in lung linings)
  • Hernia
  • Heart palpitations
  • Leaky heart valve
  • Crowded teeth
  • Unexplained stretch marks on skin
  • Diagnosis

    Marfan Syndrome is diagnosed following a physical exam and based on family history.

    Treatment

    There is no cure for Marfan Syndrome. Treatment involves symptom management such as pain medications, and monitoring the patient for heart problems.

    This has been your Medical Minute.

    More info on the Web

    What is Marfan Syndrome? | The Marfan Foundation

    Marfan syndrome – Mayo Clinic

    Marfan Syndrome: MedlinePlus

    Genetics of Marfan Syndrome – Medscape Reference

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