Marfan syndrome is an inherited disorder of the connective tissue in the body. It affects mainly the muscles, bones, eyes, and heart. It occurs in about 1 out of every 10,000 people.
Marfan syndrome is caused when there is a mistake in the gene that makes fibrillin. Fibrillin is needed to support most of the tissues that make up the body. When the fibrillin is defective, problems can occur in muscles, bones, eyes, heart, and even the skin and lungs.
The life-threatening complications of Marfan syndrome are mostly due to the problems with the heart valves and the aorta. As the heart valves weaken, they stop pumping the blood as well as needed. This can lead to heart failure or changes in the heart rhythm. The valves can also become infected. This can lead to blood clots. The place where the aorta leaves the heart can become too wide and begin to tear. This is called an aortic dissection.
Problems with the lens and the retina of the eye can lead to blindness. If the spine begins to curve, it can lead to scoliosis.
Marfan syndrome is present at birth but it sometimes doesn't show any signs until the teen years. The condition can range from mild to very severe. Doctors can pick up the most severe cases in infancy. These infants may have:
An older person with Marfan syndrome is often very tall with a long thin face. The arms, fingers, and legs are longer than usual. They can be "double-jointed." The backbone may begin to curve. The whites of the eyes may have a bluish tint. People with Marfan syndrome are often near-sighted. The lens of the eye can become dislocated. There can also be serious problems with the heart valves and the blood vessels.
There is no specific test to diagnose Marfan syndrome. The doctor will make the diagnosis based on the presence of symptoms and signs. Some tests should be done to monitor the condition. These include:
Marfan syndrome cannot be prevented. It is more common in children of older fathers. A child has a 50% chance of inheriting Marfan syndrome from an affected parent. However, up to one-third of people with Marfan syndrome are the first ones to have it in their family. Genetic counseling is important for all affected families.
When the diagnosis is made early, steps can be taken to prevent or treat many complications that can occur with the eyes, heart, and spine. However, if Marfan syndrome is not diagnosed, it can lead to problems with the heart that can be life threatening. Also, untreated eye problems can lead to decreased vision or blindness. If the spine is not checked, curvature can occur. A severe curvature of the spine can cause many problems. These can include breathing problems, arthritis, and pain.
Marfan syndrome is not catching. Any family that is affected by the syndrome should have genetic counseling.
Treatment of Marfan syndrome is aimed at preventing complications. Heart medicines, such as beta-blockers, may be used to reduce the stress on the heart valves and blood vessels. If the valves have been damaged, antibiotics may be needed at times to prevent a life-threatening infection of the heart valve. Valve replacement surgery may be needed. Eye surgery is sometimes done to correct some of the damage to the lens or the retina of the eye. This may help to prevent blindness. Bracing or surgery may be needed to correct a curvature of the spine. Hormone therapy may be used to keep young girls from becoming too tall. Physical therapy may help improve muscle tone, especially in infants and children who have this syndrome.
Beta-blockers can cause side effects including tiredness, dizziness, and sexual side effects but these are not common in most people. They may also cause breathing problems in people who have asthma.
Antibiotics can cause stomach upset or allergic reactions in some people.
Surgical risks should be discussed with the surgeon or ophthalmologist, but any risks are usually outweighed by the benefits of the treatment.
Hormone therapy has side effects such as headaches and blood clots.
Patients with Marfan syndrome need to be followed closely by their doctors to prevent complications from occurring.
Echocardiograms will need to be done frequently to check the heart and its valves. An ophthalmologist will need to check the eyes on a regular basis to prevent vision problems. As a child with Marfan syndrome grows, the spine will have to be checked for a curvature at least twice a year. Women with Marfan syndrome who become pregnant will have to be monitored closely as a "high-risk" pregnancy. Any new or worsening symptoms should always be reported to the doctor.
Author:Melinda Ratini, DO, MS
Editor:Crist, Gayle P., MS, BA
Reviewer:Kathleen A. MacNaughton, RN, BSN