Marfan syndrome is an inherited disorder affecting the connective tissues in the body, primarily the muscles, bones, eyes, and heart. It occurs in about 1 out of every 10,000 people.
Marfan syndrome is caused by an error in the gene that makes fibrillin, a protein needed for structural support in most of the tissues of the body. When the fibrillin is defective, problems can occur in muscles, bones, eyes, heart, and even the skin and lungs.
Marfan syndrome is present at birth, but ranges from a mild condition that shows no signs until the teen years, to very severe cases that manifest in infancy. These infants may have: muscle weaknesslong thin fingersa long-shaped faceloose skinproblems with the lens of the eyeabnormal heart valves
In addition, the place where the aorta leaves the heart may be too wide. The aorta is the large blood vessel that takes the blood from the heart to all parts of the body.
An older person with Marfan syndrome is often very tall with a long, thin face. The arms, fingers, and legs are longer than usual. The person may be "double-jointed" and may have an abnormal curvature of the spine. 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. The tissue of the heart valves and blood vessels may be weakened enough to interfere with their function.
The life-threatening complications of Marfan syndrome occur mostly with the heart valves and the aorta. As the heart valves weaken, they stop pumping the blood efficiently. This can lead to heart failure or abnormalities in the heart rhythm. The valves may also become infected, leading to blood clots.
The junction where the aorta leaves the heart can widen and begin to tear - a condition referred to as aortic dissection.
Problems with the lens and the retina of the eye can lead to blindness. Scoliosis, an abnormal curvature of the spine, can cause pain and lead to arthritis and difficulty breathing.
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 have no known family history of the condition. Genetic counseling is important for all affected families.
There is no specific test to diagnose Marfan syndrome. The healthcare professional will make the diagnosis based on the presence of symptoms and signs. Some tests should be done to monitor the condition. These include: echocardiograms to look at the heart valveseye check-ups with an ophthalmologistscoliosis screens for the spine
When the diagnosis is made early, steps can be taken to prevent or treat many of the eye, heart, and spine complications. Any of these consequences are more severe the longer the condition remains unrecognized.
Marfan syndrome is not contagious. 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 must be given before and during surgery or dental work to prevent life-threatening infection of the valves. In some cases, valve replacement surgery may be needed.
Some of the damage to the lens or the retina of the eye can be corrected with surgery, possibly preventing blindness.
Bracing or surgery may be needed to correct a curvature of the spine. Hormone therapy may be used to keep young girls with Marfan syndrome from becoming too tall, which would make the scoliosis worse. Physical therapy may help improve muscle tone, especially in infants and children.
Beta-blockers can sometimes cause side effects including tiredness, dizziness, and difficulty with sexual functioning. They may also worsen the symptoms of asthma. Antibiotics can cause stomach upset or allergic reactions in some people.
Risks of eye surgery should be discussed with the health care professionals involved, but most of the time the risks of surgery are 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 a healthcare professional to prevent complications from occurring.
Echocardiograms should 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 should be checked for abnormal curvature at least twice a year.
Women with Marfan syndrome who become pregnant need to be monitored closely because the increased blood flow in pregnancy raises the risk for rupture of the wall of the aorta. If a woman with the syndrome is known to have widening of the aorta already, pregnancy is not advised.
Any new or worsening symptoms should always be reported to the healthcare professional.