Marfan Syndrome

Growing up, you may have had very flexible joints. You may also have gotten stretch marks on your skin you couldn’t explain. Maybe your chest sticks out or looks sunken in. These can be signs of Marfan syndrome.

Marfan syndrome is a genetic condition that affects your body's connective tissue. Connective tissue holds and supports all your body's organs. It’s found all throughout your body. Because of that, Marfan syndrome can affect many different parts of your body. 

If it affects your aorta, you could develop aortic aneurysms or an aortic dissection. These can be serious, even life-threatening conditions. If you have Marfan syndrome, you might need surgery at some point in your life to treat problems in your aorta.

At UVA, we're national leaders in treating aortic and artery conditions with stent-grafts. Our experienced heart and vascular experts have gotten special recognition for artery, valve, and bypass surgery procedures.

Treatment for Marfan Syndrome at UVA

Marfan syndrome symptoms can be mild or severe. There is no cure. Treatment focuses on managing symptoms and preventing complications.

Your treatment for Marfan syndrome depends on which part of your body is affected. You may need:

  • Medication to control blood pressure, pain, or other issues
  • Braces or other support equipment
  • Surgery (like an aortic aneurysm repair)

You'll need to see your doctor often. They’ll monitor problems caused by Marfan syndrome.

Aortic Aneurysm & Connective Tissue

Weaker connective tissue from diseases like Marfan or Ehlers-Danlos syndromes can put you at risk for an aortic aneurysm. Cardiac surgeon Kenan Yount, MD, explains how we work together to watch and treat your connective tissue disease and aortic aneurysm. View connective tissue disease transcript.

Marfan Syndrome: Symptoms & Diagnosis

Marfan Syndrome Symptoms

Because connective tissue is all through your body, you might get symptoms anywhere. You might have had symptoms at birth. But some people don't get symptoms until later in life.

Marfan syndrome can affect your:

  • Skin
  • Skeleton
  • Spine
  • Feet
  • Eyes
  • Heart
  • Blood Vessels
  • Lungs

Not everyone with Marfan syndrome has the same symptoms. Marfan syndrome symptoms may include:

  • Tall and slender build
  • Arms, legs, and fingers that look long for your body
  • Chest is sunken in or sticks out
  • Curved spine
  • Heart murmur
  • Nearsightedness

Diagnosing Marfan Syndrome

We can diagnose you through a physical exam and an echocardiogram. An echocardiogram uses sound waves to show your heart in motion. We can see if your heart valves work properly and the size of your aorta. Other options for checking your heart include CT scanning and MRI.

How Did I Get Marfan Syndrome?

Marfan syndrome is genetic. That means you were born with it. It's caused by a mutation in a gene that controls how your connective tissue is formed. You may have gotten the mutation from one of your parents. It also may have just happened on its own, as you were forming in your mother's womb.

Genetic testing can confirm a diagnosis of Marfan syndrome. It can also see if your family members have the mutations.

Over a million Americans have an inherited heart or vascular disease. Genetic testing or cardiovascular screening with UVA Health's Heart Genetics team is the first step in spotting and managing inherited heart conditions.