Overview

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

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 aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.

Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta.

Marfan syndrome care at Mayo Clinic

The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.

Marfan syndrome features may include:

• Tall and slender build
• Disproportionately long arms, legs and fingers
• A breastbone that protrudes outward or dips inward
• A high, arched palate and crowded teeth
• Heart murmurs
• Extreme nearsightedness
• An abnormally curved spine
• Flat feet

When to see a doctor

If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you'll likely be referred to a specialist for further evaluation.

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25 percent of the people who have Marfan syndrome, the abnormal gene doesn't come from either parent. In these cases, a new mutation develops spontaneously.

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing.

In the past, people who had Marfan syndrome rarely lived past 40. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.

Medications

Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force. Losartan (Cozaar), a newer blood pressure medication, also is useful for protecting the aorta.

Therapy

A dislocated lens in your eye can be treated effectively with glasses or contact lenses that refract around or through the lens.

Surgical and other procedures

Depending upon your signs and symptoms, procedures might include:

• Aortic repair. If your aorta's diameter enlarges quickly or reaches about 2 inches (5 centimeters), your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Your aortic valve may need to be replaced as well.
• Scoliosis treatment. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. If the curve in your child's spine is too great, your doctor may suggest surgery to straighten the spine.
• Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered to be for cosmetic purposes, your insurance might not cover the costs.
• Eye surgeries. If parts of your retina have torn or come loose from the back of your eye, surgical repair is usually successful. If you have cataracts, your clouded lens can be replaced with an artificial lens.

Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.