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 heart or blood vessels are affected, the condition can become life-threatening.

Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.

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, fingers and toes
  • 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.

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.

Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.

Cardiovascular complications

The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta — the large artery that arises from the heart and supplies blood to the body.

  • Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart.
  • Aortic dissection. The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and can result in a rupture, which may be fatal.
  • Valve malformations. People who have Marfan syndrome also are more likely to have problems with their heart valves, which may be malformed or overly elastic. When heart valves don't work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.

Eye complications

Eye complications may include:

  • Lens dislocation. The focusing lens within your eye can move out of place if its supporting structures weaken. The medical term for this problem is ectopia lentis and it occurs in more than half the people who have Marfan syndrome.
  • Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.
  • Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye problems at a younger age. Glaucoma causes the pressure within the eye to increase, which can damage the optic nerve. Cataracts are cloudy areas in the eye's normally clear lens.

Skeletal complications

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It also can interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome.

Complications of pregnancy

Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, a woman's heart is pumping more blood than usual, and this can put extra stress on a woman's aorta — which increases the risk of a deadly dissection or rupture.

Marfan syndrome can affect many different parts of your body, so you may need to see a variety of medical specialists, such as:

  • A cardiologist, a doctor who specializes in heart and blood vessel disorders
  • An ophthalmologist, a doctor who specializes in eye disorders
  • An orthopedist, a doctor who specializes in structural problems of the skeleton
  • A geneticist, a doctor who specializes in genetic disorders

To make the best use of appointment time, plan ahead and have important information available, including:

  • Detailed descriptions of all your symptoms
  • Details of your past medical history, including any previous surgeries
  • A list of all your medications and supplements

What to expect from your doctor

All your doctors will want to hear about your specific symptoms, and whether anyone in your family has had Marfan syndrome or experienced an early, unexplained heart-related disability or death.

Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.

Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder.

Heart tests

If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta. Other heart imaging options include computerized tomography (CT) scans and magnetic resonance imaging (MRI).

If you are diagnosed with Marfan syndrome, you'll need to have regular echocardiograms to monitor the size and condition of your aorta.

Eye tests

Eye exams that may be needed include:

  • Slit-lamp exam. This test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam.
  • Eye pressure test. To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test.

Genetic testing

If findings from standard exams for Marfan syndrome aren't clear cut, genetic testing can be helpful. You may also want to talk to a genetic counselor before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. 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. Other blood pressure drugs, such as losartan (Cozaar), also show promise.

Therapy

A dislocated lens in your eye can be treated effectively with glasses or contact lenses that refract around or through the lens. Surgery to replace the lens also may be an option.

Surgical and other procedures

Depending upon your signs and symptoms, procedures might include:

  • Aorta repair. If your aorta's diameter enlarges quickly or reaches a dangerous size — usually around 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. If a sunken breastbone affects your child's breathing, surgery to repair the deformity may be an option, and insurance is likely to cover it. A protruding breastbone usually doesn't cause functional problems, but it may be a cosmetic concern — which may mean your insurance won't cover it.
  • 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.

You may need to avoid competitive sports and certain recreational activities if you're at increased risk of aortic dissection or rupture. Increases in blood pressure, common in activities such as weightlifting, place extra strain on the aorta. Less intense activities — such as brisk walking, bowling, doubles tennis or golf — are generally safer.

Living with a genetic disorder can be extremely difficult for both adults and children. Adults who receive a diagnosis later in life may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children.

But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease's effect on appearance, academic performance and motor skills.

Providing emotional, practical support

Working together, parents, teachers and medical professionals can provide children with both emotional support and practical solutions for some of the more distressing aspects of the disease. For example, children with Marfan syndrome may struggle in school because of eye problems that can be corrected with glasses or contact lenses.

For most young people, cosmetic concerns are at least as important as academic ones. Parents can help by anticipating these concerns and offering solutions:

  • Contact lenses instead of glasses
  • A brace for scoliosis
  • Dental work for crowded teeth
  • Clothes that flatter a tall, thin frame

In the long run, accurate information about the disease, good medical care and strong social support can help both children and adults cope with Marfan syndrome.

Feb. 01, 2013