Marfan syndrome

Overview

Marfan syndrome is a genetic condition that affects the connective tissue in the body. Connective tissue helps support structures in the body, including organs, bones and blood vessels. Marfan syndrome most commonly affects the heart, eyes, blood vessels and bones.

People with Marfan syndrome are often tall and thin. They may have long arms, legs, fingers and toes. Some people have only mild damage caused by Marfan syndrome, but others can have serious health issues. The most serious risk is damage to the aorta, the large blood vessel that carries blood from your heart to the rest of your body. If the aorta becomes weak or tears, the condition can become life-threatening.

Treatment usually includes medicines to keep your blood pressure low. This helps reduce the strain on your aorta. Regular checkups are important to keep track of whether the condition is worsening. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta.

Causes

Marfan syndrome is a hereditary condition. This means it is passed from a parent to a child via an altered gene, also called a gene mutation. Marfan syndrome is caused by a change in the gene that affects how the body makes the protein fibrillin. This protein helps connective tissue stay strong and flexible.

Biological children of a parent with the altered gene have a 50-50 chance of inheriting the gene mutation. About 3 out of every 4 people with Marfan syndrome inherited it. Sometimes people are the first in their families to have the condition.

Complications

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 large artery that arises from the heart and supplies blood to the body, called the aorta. Issues related to the heart and blood vessels may include:

• Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your aorta to bulge, like a weak spot in a tire. If you have Marfan syndrome, this weak spot is most likely to be at the aortic root, where the artery leaves your heart.
• Aortic dissection. The wall of the aorta is made up of layers. Dissection happens when a small tear in the innermost layer of the wall allows blood to squeeze between the inner and outer layers. 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.
• Changes in valve structure. People who have Marfan syndrome can have weak tissue in their heart valves. This can stretch the valve tissue and change valve function. When heart valves don't work properly, the heart often must work harder to pump the blood the body needs. 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 condition is ectopia lentis. It happens in more than half of the people who have Marfan syndrome.
• Retinal conditions. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back walls of your eyes.
• Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye conditions at a younger age. Glaucoma increases the pressure within the eye, which can damage the optic nerve. Cataracts are cloudy areas in the eye's lens. The lens is usually clear.

Skeletal complications

Marfan syndrome increases the risk of curves in the spine that are not typical, such as scoliosis. Marfan syndrome also can interfere with the typical growth of the ribs. The breastbone can either protrude or appear sunken into the chest. Foot pain and low back pain also 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, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a dissection or rupture, which can be fatal.

Treatment

While there is no cure for Marfan syndrome, treatment can help prevent the various complications of the condition. You're checked regularly for signs that the damage caused by Marfan syndrome is getting worse.

In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more typical lifespan.

Medicines

Healthcare professionals often prescribe medicine to lower blood pressure. This helps prevent the aorta from enlarging, which lessens the risk of dissection and rupture. Evidence from clinical trials supports treatment with two types of blood pressure medicines — beta blockers and angiotensin receptor blockers.

Therapy

The vision issues associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses.

Surgical and other procedures

Depending on your symptoms, procedures might include:

• Aortic repair. If your aorta's diameter reaches about 2 inches (50 millimeters) or if it enlarges rapidly, your care team may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a rupture. Your aortic valve may need to be replaced as well.
• Scoliosis treatment. When there is significant scoliosis, you may need to see a spine expert. You may need bracing and surgery.
• Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered cosmetic, 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.

Coping and support

Living with a genetic condition can be extremely hard for both adults and children. Adults may wonder how the disease might affect their careers, their relationships and their sense of themselves. And they may worry about passing the changed gene to their children.

Marfan syndrome can be especially tough for young people. The condition can make them feel self-conscious because it affects how they look, how they move and even how they do in school.

Helping children cope

Parents, teachers and medical professionals can work together to help children with Marfan syndrome. They can offer emotional support and practical solutions for some of the more challenging parts of the condition. For example, children with Marfan syndrome might have trouble in school because of vision changes, but these can be treated 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, such as:

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

Support groups

People who have Marfan syndrome often find it helpful to talk with others facing similar challenges. The Marfan Foundation provides a variety of support services online.