What is Marfan syndrome?
Marfan syndrome is a heritable disorder of the connective tissue (the part of the body that holds everything together) that affects many organ systems, including the skeleton, the lungs, the eyes and the heart and blood vessels. The condition can affect both men and women of any race or ethnic group. It is estimated that 40,000 people in the United States have Marfan syndrome.
What causes Marfan syndrome?
An abnormal (mutant) gene leads the formation of abnormal proteins which form the connective tissue. This leads to abnormal connective tissue and then the syndrome. Most of the time, the gene is inherited from a parent who is also affected. About a fourth of cases occur when the abnormal gene arises in an egg or sperm of an unaffected parent (a “new mutation.”) Marfan syndrome is inherited as an “autosomal dominant” condition. This means that someone with the Marfan syndrome has a 50 percent chance that any of his/her children will inherit the condition. The genetic test for Marfan is available at some centers, but not routinely covered by insurance. Read more about our Division of Genetics, Birth Defects and Metabolism »
How is Marfan syndrome diagnosed?
Aside from the genetic test, which may be unavailable in some centers, the condition is diagnosed by a medical history and physical examination. A family medical history of Marfan syndrome is an important piece of information. Few symptoms may occur unless the heart, eyes or lung is involved. It is important to note that not everyone with Marfan syndrome will have all the possible signs and complications of Marfan syndrome, and that the severity of these can vary from individual to individual. In addition to a physical examination, tests such as an echocardiogram or a “slit-lamp” examination by an ophthalmologist may be useful to assess parts of the body not visualized by an ordinary physical examination.
What are medical problems and complications associated with Marfan Syndrome?
The most serious problems with Marfan syndrome involve the cardiovascular system. Less serious is the problem of “floppy” or redundant valves, especially the mitral valve. When the mitral valve is floppy, it moves backwards or prolapses after it closes which is called “mitral valve prolapse.” This is not itself a problem, but it may be associated with clot formation which may cause strokes. The valve may also become leaky, which is a problem. As the leakiness increases, more blood flows backward instead of forward and the heart has to work harder to get blood out to the body. As a result, the heart enlarges and increases the risk of abnormal rhythm problems. If the leakiness is severe, too much blood leaks backwards, and not enough blood is pumped forward to the body and heart failure occurs. At this point, surgery to repair or replace the valve is needed.
The more serious cardiovascular problem is the enlargement or dilation of the aorta. The aorta is the main artery that carries blood from the heart to the body. In patients with Marfan syndrome, the aorta is wider and more fragile (weaker wall) than in patients without Marfan syndrome. Over time, the widening is progressive and may result in leakage of the aortic valve or in the development of tears (dissection) within the wall of the aorta. When the aorta becomes very dilated or torn, surgical repair is necessary as dissection of the aorta can rupture, cause obstruction of branches of the aorta, or continue to tear.
Other problems of Marfan syndrome include dislocation of the lenses which may lead to visual problems. This occurs in about half of people with Marfan syndrome. Also, many people with Marfan syndrome may have near-sightedness (myopia). Therefore, it is important for people with Marfan syndrome to see an ophthalmologist regularly.
Skeletal problems associated with Marfan syndrome are the most noticeable features on examination. Long fingers and toes, tall stature, loose (“double”) jointedness, curvature of the spine (scoliosis), and abnormally shaped chest (“pectus” deformity) may be present. Abraham Lincoln is a typical example of the physical features of Marfan syndrome.
How is the Marfan syndrome treated and followed?
People affected with the Marfan syndrome ought to be followed by physicians familiar with the condition and how it affects all body systems. Frequently this is accomplished by a team of physicians consisting of a cardiologist, ophthalmologist, orthopedic surgeon, and geneticist. Regular follow-up with these physicians is recommended, with frequency dictated by the type and severity of the Marfan associated problem. Cardiology follow-up us usually at least once a year once the diagnosis of Marfan syndrome is made and may include additional testing such as an echocardiogram to assess for the presence of worsening of the heart problems such as aortic dilation.
There is no cure for Marfan syndrome at this time. However, medications may be used to decrease the force with the heart pumps into the aorta to decrease the stress on the walls of the aorta. These medicines are called beta-blockers which are also used to treat high blood pressure. In addition, strenuous exercise, some competitive sports and contact sports may be restricted to also reduce injury to the aorta. If valve abnormalities are found, antibiotics may be prescribed around the time of surgical or dental procedures to prevent endocarditis.
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