Marfan Syndrome

Marfan syndrome is a genetic disorder associated with abnormal connective tissue. It is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1, a protein in connective tissue.

Marfan syndrome affects the connective tissue throughout the body. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in controlling how the body grows and develops.

Men, women, and children can have Marfan syndrome. It is found in people of all races and ethnic groups.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. Marfan syndrome does not affect intelligence.

There is no single test to diagnose Marfan syndrome and it has no cure. Treatments can help delay or prevent complications and may include medicines, surgery, and other therapies.

When diagnosed early and properly treated, people with Marfan's syndrome can often live an average lifespan.

Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1, a protein in connective tissue. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.

See your doctor if you or a family member has features such as a tall, thin build, very long limbs and fingers, and eye or heart problems. Seek emergency care for sudden chest, back, or abdominal pain, which can signal a dangerous tear in the aorta.