Marfan syndrome

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that provide the framework and support for your body. 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. Marfan syndrome is an autosomal dominant condition, which means that a defective gene from only one parent is needed to pass the disease on. It also means that each child of an affected parent has a 50-50 chance of inheriting the defective gene. As a result, Marfan syndrome can involve many different body systems, including your heart and blood vessels, eyes, and skeleton. The damage caused by Marfan syndrome can be mild or severe. The most serious effects of Marfan syndrome can be life-threatening. People with Marfan syndrome are usually tall and thin, with disproportionately long arms, legs, fingers and toes. According to the National Institutes of Health, Marfan syndrome occurs in at least one person per 5,000.

Because Marfan syndrome can affect so many body systems, the symptoms of the disease vary greatly, even among members of the same family. Some people experience only mild effects, whereas 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
  • A curved spine
  • Flat feet

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.

Marfan syndrome may cause a wide variety of 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 curves over your heart and supplies blood to the body, then splits in your pelvis to supply blood to your legs.

  • Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your artery 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. The bulge can spread along the entire length of the aorta, into your abdomen. If it ruptures or tears, you may die.
  • Aortic dissection. The wall of the aorta is made up of thin 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 often results in a rupture, which can be fatal.
  • Valve malformations. People who have Marfan syndrome are also 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 muscle often has to work harder to compensate. This can eventually lead to heart failure.

Eye complications may include:

  • Dislocation of the lens in one or both eyes because of weakness in the ligaments that hold the lens in place.
  • Glaucoma, a condition in which abnormally high pressure within your eyes damages the optic nerve. Symptoms may range from sensitivity to light and glare to severe eye pain, blurred vision and blindness.
  • A cataract, which clouds the eye’s normally clear lens.
  • Detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.

Marfan syndrome can cause breathing difficulties, either from defective connective tissue or from chest wall abnormalities. Severe spinal curvature or a concave chest, for instance, may restrict your breathing and cause you to feel short of breath during mild or moderate activity. People with Marfan syndrome are also at higher risk of:

Women with Marfan syndrome face possible complications during pregnancy. The main threat is a rapid increase in the size of your aorta, leading to life-threatening aortic dissection or rupture. Although the risk of dissection during pregnancy is unpredictable, it’s generally low if your aorta isn’t enlarged before you become pregnant. But if your aorta is even slightly enlarged, the risk increases greatly. Pregnancy isn’t recommended if your aorta is enlarged.

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 Marfan symptoms, but not enough of them to be diagnosed with the disorder.

Diagnostic tests may include:

  • Echocardiogram. This test is a sonogram of your heart. It uses sound waves to capture real-time images of your heart in motion. Echocardiograms are particularly good at telling how well your heart chambers and valves are working. To better visualize your aorta, your doctor may recommend a transesophageal echocardiogram — in which the sound waves are generated from within your body by a device threaded down your esophagus.
  • Electrocardiogram (ECG or EKG). An ECG checks for heart rhythm problems, using adhesive electrodes attached to your chest.
  • MRI or CT scans. These tests can help your doctor examine your aorta. MRIs use a strong magnet and radio waves to visualize soft tissues inside your body. A CT scan uses a special dye that can be seen on X-rays. The dye is injected into your vein, to produce images of your aorta.
  • Slit-lamp exam. This eye 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. Presently, there’s no genetic test that can definitely establish or rule out a diagnosis of Marfan syndrome. However, you may want to consider genetic testing and genetic counseling before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.

In the past, people with Marfan syndrome usually died of heart problems in their early 30s. Treatments to prevent aortic ruptures now allow many people with Marfan syndrome to live into their 70s.

While no treatment exists for Marfan syndrome itself, therapy focuses on preventing the various complications of the disease. For that reason, the treatment you receive will depend on the nature and severity of your symptoms. The cardiovascular complications association with Marfan syndrome can be life-threatening, so doctors typically recommend an annual heart exam.

Two main approaches exist for treating cardiovascular complications:

  • Medications. Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection, even though your blood pressure may be normal. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force and reduce your risk of aortic dissection and rupture.

    If you can’t tolerate the side effects of beta blockers, your doctor may prescribe an angiotensin-converting enzyme inhibitor, angiotensin receptor blocker or calcium channel blocker instead. Children often receive the same medications as adults.

  • Surgery. If your aorta’s diameter enlarges quickly or reaches a dangerous size — usually around 2 inches (5 cm) — 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. Some people with Marfan syndrome may require multiple operations.

Many of the skeletal problems that affect people with Marfan syndrome also occur in the general population and are treated the same way. They include:

  • Scoliosis. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. Although a brace can’t permanently straighten the spine, it may help stop spinal curvature from becoming worse. If the curve in your child’s spine is too great, a brace may not be effective and your doctor may suggest surgery to straighten the spine.
  • Concave chest. When a concave chest affects your child’s breathing, surgery may be an option. The operation consists of raising the sternum and ribs and holding them in place. A convex chest doesn’t cause functional problems, but it may be a cosmetic concern and can also be corrected surgically.

Because of the eye problems that can occur with Marfan syndrome, doctors usually recommend an annual eye exam for people with the disease. These problems include:

  • Dislocated lens. In younger children, a dislocated lens can be treated effectively with glasses or contact lenses that refract around or through the lens. Adolescents who find glasses cosmetically unacceptable or their visual field too restricted may be candidates for a type of intraocular lens implant.
  • Glaucoma. While glaucoma can’t be cured, the disease can be controlled with early detection and treatment. Eyedrops, oral medications and surgical procedures can prevent or slow further damage.
  • Cataracts. Surgery to replace your clouded lens with an artificial lens is usually very successful at improving vision damaged by cataracts. You may want to consider cataract surgery once vision loss begins to interfere with everyday activities.
  • Retinal detachment. In most cases, eye surgeons can repair sections of the retina that have torn or detached.

Depending on your risk of heart, eye or skeletal complications, your doctor may recommend that you avoid competitive sports and certain recreational activities.

High risk

  • Weightlifting
  • Ice hockey
  • Football
  • Rock climbing
  • Surfing
  • Scuba diving

Medium risk

  • Basketball
  • Racquetball
  • Squash
  • Running
  • Skiing
  • Singles tennis
  • Touch football
  • Soccer
  • Baseball
  • Biking
  • Lap swimming

Low risk

  • Bowling
  • Golf
  • Skating
  • Snorkeling
  • Brisk walking
  • Modest hiking
  • Doubles tennis

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. 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 easily be corrected with glasses or contact lenses. And difficulty with handwriting, a fine-motor skill, can be remedied by allowing students to use laptop computers in the classroom or by giving them more time on handwritten assignments.  For most young people, though, 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; and 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.