Marfan Syndrome

Because Marfan syndrome can affect your heart, blood vessels, skeleton and eyes, you or your child needs a team of experienced specialists — like those at Rush.

Because Marfan syndrome can affect your heart, blood vessels, skeleton and eyes, you or your child needs a team of experienced specialists — like those at Rush.

Because Marfan syndrome can affect your heart, blood vessels, skeleton and eyes, you or your child needs a team of experienced specialists — like those at Rush.

An inherited disorder, Marfan syndrome affects your connective tissue. These fibrous tissues hold together and support organs, bones and cells throughout your body. Connective tissue also plays a role in how you grow and develop. Since the majority of people who have Marfan syndrome have it passed down from their parents, comprehensive genetic testing and counseling is key for accurate diagnosis and treatment.  

How Marfan Syndrome Can Impact Your Health

Marfan syndrome symptoms include the following:

  • Disproportionately long arms, fingers, legs and toes
  • Tall, thin appearance
  • Hyperflexible joints
  • Nearsightedness (myopia)

Marfan syndrome also raises your risk of a variety of health problems:

  • Bone and joint problems: Some people with Marfan syndrome develop scoliosis, or an abnormally curved spine. A sunken or protruding chest is also a risk if the ribs do not develop normally. You may also have back or foot pain.
  • Heart and blood vessel problems: These are the most serious Marfan syndrome complications. The aorta, the main blood vessel that provides the body with blood, may stretch and weaken, potentially causing an aortic aneurysm. Weak connective tissue can also cause heart valve problems, which can lead to heart failure. Pregnant women with Marfan syndrome need to be carefully monitored for heart and blood vessel problems because pregnancy puts extra burden on the heart.
  • Eye complications: You may develop lens dislocation (ectopia lentis), glaucoma, cataracts, retinal tears or detachments.
  • Emotional issues: Children, teenagers and adults with Marfan syndrome may need mental health support to help them cope with symptoms and embrace their physical appearance.

Marfan Syndrome Treatment at Rush

Your care will be overseen by one of our rheumatologists who specialize in diseases that affect the bones, joints and muscles, such as Marfan syndrome. Rush rheumatologists will make a diagnosis based on the following:

  • Physical examination
  • Family history
  • Genetic testing (possibly)
  • An echocardiogram to look for any heart and blood vessel problems

You or your child may also be referred for other tests and consultations with Rush specialists to identify or rule out serious health problems, including the following:

  • An echocardiogram to look for any heart and blood vessel problems
  • Eye exams

There is no cure for Marfan syndrome, but it is manageable. Your Rush rheumatologist may refer you to other Rush specialists in cardiology, ophthalmology, orthopedics and physical medicine and rehabilitation. At Rush, we all collaborate to provide the treatments that you or your child needs, which may include the following:

  • Regular testing for potential complications
  • Drugs, such as beta blockers, to manage or prevent heart problems
  • Surgery if an aortic aneurysm develops
  • Physical therapy

Rush Excellence in Marfan Syndrome

  • High-performing programs: U.S. News & World Report consistently awards high national rankings to some of the programs at Rush that may provide your care, including orthopedics and cardiology and cardiac surgery.
  • Comprehensive genetic testing and counseling: The majority of people who have Marfan syndrome have it passed down from their parents. If you are affected, you have a 50% chance of passing the gene to your children. Our genetic counselors are actively involved in diagnosing Marfan syndrome and can also counsel you on family planning questions.
  • Personal, compassionate care. Rush rheumatologists who treat Marfan syndrome have received high patient satisfaction ratings. Specifically, patients commend the doctors' listening skills and empathy, in addition to their deep clinical expertise.