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What Is Marfan Syndrome?

Marfan syndrome is a genetic condition involving the body's connective tissue. Connective tissue gives structure and support to all parts of the body, including the skin, bones, blood vessels, and organs.

What Causes Marfan Syndrome?

Marfan syndrome happens because of an abnormality in one copy of a gene that causes problems with the body's production of the protein fibrillin. This protein is an important part of connective tissue. Abnormal connective tissue can lead to problems in many parts of the body, especially the heart, eyes, and bones.

Most kids with Marfan syndrome have it because they inherited the abnormal gene from one of their parents, but sometimes it happens in a child without a family history. Either way, each child born to a person with Marfan syndrome, male or female, will have a 50% chance of inheriting the abnormal gene.

What Are the Signs & Symptoms of Marfan Syndrome?

People with Marfan syndrome are often taller than expected for their family and slender with long fingers and toes. They also may have a long face, deep-set eyes, a small jaw, and a high-arched roof of the mouth with crowded teeth. Their chest may cave in (pectus excavatum) or stick out (pectus carinatum), and they may have scoliosis (a curved spine) and flat feet

People with Marfan syndrome might also have other medical problems, including:

  • enlargement of the aorta (the large blood vessel that carries blood from the heart to the body). If the wall of the aorta becomes very weak, it can tear and lead to serious bleeding in the body.
  • heart valve problems
  • eye problems
  • a pneumothorax (collapsed lung)

The symptoms of Marfan syndrome can vary greatly — even within the same family. Some people have very mild symptoms, while others have more serious problems. This makes it impossible to predict what problems may develop as the child grows.

How Is Marfan Syndrome Diagnosed?

Diagnosing Marfan syndrome usually involves detailed exams by different doctors, including: 

  • a cardiologist (heart specialist)
  • an ophthalmologist (eye doctor)
  • an orthopedist (bone specialist)
  • a geneticist (specialist who helps to find causes for diseases)

To make the diagnosis, doctors:

  • ask if anyone else in the family has Marfan syndrome
  • do an exam to look for features associated with Marfan syndrome, such as pectus excavatum or scoliosis
  • do tests such as:
    • an echocardiogram, which uses sound waves to make a picture of the heart, checking the size of the aorta and how the heart valves are working
    • a complete eye exam
    • a blood test to look at the gene associated with Marfan syndrome
    • X-ray of the chest and spine

How Is Marfan Syndrome Treated?

There's no cure for Marfan syndrome because the gene change cannot be reversed. But most of the symptoms can be treated. It's important for your child to go to all regular doctor's visits for testing of the heart, eyes, and bones. This way the care team can find any problems early and start treatment right away.

Treatments may include:

  • limits on exercise, such as no strenuous activities and no contact sports or sports where there's a risk of getting hit in the chest
  • medicines to lower blood pressure and heart rate to protect the aorta
  • wearing glasses or contact lenses
  • a back brace for scoliosis
  • surgery on heart valves or the aorta, if needed

Also, kids with Marfan syndrome should wear a medical alert device (a bracelet or necklace) that says they have the condition.

When Should I Call the Health Care Provider?

Heart-related emergencies are rare in young people with Marfan syndrome. But call your health care provider if your child has:

  • chest pain
  • shortness of breath (especially during exercise)
  • an irregular pulse
  • sudden weakness or tingling in the legs and arms
  • an unexplained fever
  • sudden vision changes

What Else Should I Know?

Learning about Marfan syndrome and finding a knowledgeable medical team are important for your child's care. Genetics follow-up is recommended to help the family understand how Marfan syndrome is passed down to children, and also to help coordinate screening and specialty visits.

Talk to your child honestly about the condition. Work with the care team to find safe activities they can enjoy. Kids and teens with Marfan syndrome need to play and laugh. They also should know that there are more things they can do than things they can't.

Keep in touch with teachers and the nurse at school. This way, they can find ways for your child to be included even if they can't compete (for example, instead of playing in the soccer game, your child can be the scorekeeper). They also need to know the signs of possible problems so they can respond quickly.

Ask your care team about support available locally. You also can look online at:

Medically reviewed by: Nina Powell-Hamilton, MD
Date reviewed: February 2022