Marfan syndrome is an inherited disorder that affects your connective tissue.

What is Marfan syndrome?

Marfan syndrome is an inherited disorder that affects your connective tissue. Connective tissue supports and anchors your organs and other structures in your body. People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe.

If your heart is affected, its valves may be oversized and may not function properly, which causes some blood to flow backwards when the heart pumps.

If the aorta (the body's main artery which carries oxygen-rich blood out of the heart to the rest of the body) is affected, it may enlarge or split, leaking blood into your chest or abdomen. This is known as a dissecting aortic aneurysm.

Learn more about Marfan syndrome.

What are the symptoms of Marfan syndrome?

Symptoms of Marfan syndrome include:

  • Fatigue
  • Dizzy spells
  • Shortness of breath
  • Fainting
  • Irregular pulse

What are the causes of Marfan syndrome?

Marfan syndrome is caused by a defect in the gene. Most people with Marfan syndrome inherit this gene from a parent who has this disorder.

Learn more about the causes of Marfan syndrome.

How is Marfan syndrome diagnosed?

Your doctor will review your medical history and may order the following tests:

What treatment is available for Marfan syndrome?

Your doctor may treat your condition with a combination of medication and lifestyle changes.

Beta-blockers are the most commonly prescribed medication, used to slow your heart rate by reducing the effect of adrenaline on your heart.

In some cases, patients may need heart valve surgery or part of their aorta may need to be replaced.

Resources

The following resources have information on the causes, symptoms, diagnosis and treatment for Marfan syndrome: