Marfan syndrome fact sheet

Marfan syndrome is an inherited connective tissue disorder that can affect the heart, blood vessels, lungs, eyes, bones and ligaments. Symptoms of Marfan syndrome may be mild or severe, and may be present at birth or appear in childhood or in adult life.

Marfan syndrome affects about 1 in 5,000 in the UK. It is one of the most common of the more than 100 inherited disorders of connective tissue (material that holds tissues of the body together). The disorder affects males and females from all racial and ethnic groups. It is named for Dr. Antoine Marfan who, in 1896, described a 5-year-old patient with unusually long, slender fingers and limbs and other skeletal abnormalities.

How are individuals with Marfan syndrome affected?

Affected individuals often are tall, slender and loose-jointed. Arms and legs may be unusually long in proportion to the torso. Feet often are flat. The spine may be curved (scoliosis), and the breastbone may protrude or look caved in. The face may be long and narrow, with a high roof of the mouth and crowded teeth.

The most serious problem associated with Marfan syndrome is weakness of the aorta (the body's largest artery), which affects most individuals with Marfan syndrome to some degree. Blood pumped from the heart passes forcefully and directly into the aorta, which branches out to carry oxygen-rich blood to the entire body. As the walls of the aorta gradually weaken, (aortic dilation) they can split in places, allowing blood to leak into the chest, abdomen or wall of the aorta itself. Sudden, large splits can result in death.

Affected individuals also may have abnormalities involving the heart's mitral valves (mitral valve prolapse). Heart valves are pairs or trios of flaps that keep the blood flowing in one direction through the heart. In individuals with Marfan syndrome, these valves tend to be oversized and floppy. Their motion during heartbeats may allow brief reverse blood flow and cause a heart murmur (an abnormal sound heard through a stethoscope) and, sometimes, irregular or rapid heartbeat and shortness of breath. In addition, persons with Marfan syndrome are more prone than others to sudden collapse of a lung.

In some 50 percent of persons with Marfan syndrome, the lens of an eye is off-center. Nearsightedness and cataracts are other common problems, whether the lens is in place or not. Also the retina, the light-sensing inner lining of the eye, may become detached.

The severity of the effects of Marfan syndrome vary, meaning that some people with the syndrome have more serious effects than others. This variability can occur even within one family.

How is Marfan syndrome diagnosed?

How is Marfan syndrome treated?

Advances in treatment have greatly improved the outlook for children and adults with Marfan syndrome. Today, the life expectancy of individuals with the disorder who receive proper treatment is about 70 years.

Most of the problems associated with Marfan syndrome can be managed effectively, as long as they are diagnosed early. The disorder usually is treated by a team of specialists, overseen by a single doctor who knows all of its aspects. The greatest danger is death from a sudden split in the aorta. This may happen from the normal pumping of blood through a weak aorta or from extreme physical or emotional activity that sends the blood rushing at high pressure. Children and adults with Marfan syndrome are warned to avoid heavy exercise, contact sports and lifting heavy objects. However, with their doctors' guidance, many are able to participate in less vigorous activities such as walking, bicycle riding and swimming.

Yearly or more frequent echocardiograms are recommended to see if the aorta is dilating. This and other heart and aorta examinations (such at CT or MRI scans) can alert a specialist before problems with the aorta or other heart structures become severe. High blood pressure medications called beta blockers often are prescribed, as these drugs reduce the strength and frequency of heartbeats and the strain on the aorta. Studies suggest that beta blockers may slow down the rate of aortic dilation and help prevent the artery from splitting.

There also are operations that have proven successful in treating aortic dilation before there is a danger of its splitting. In a typical operation, the faulty aortic valve, along with a section of the aorta where it emerges from the heart, is replaced with an artificial valve attached to a synthetic tube. A recent study showed that early preventive surgery for aortic dilation is far safer than waiting until emergency surgery is needed. With preventive surgery, the death rate was 1.5 percent vs. 12 percent for patients who had surgery on an emergency basis.

When necessary, other faulty heart valves also can be surgically repaired or replaced. After any valve replacement surgery, the patient is given anti-clotting medication for life, because blood tends to clot when it comes in contact with artificial valves.

Because of heart valve abnormalities, most people with Marfan syndrome are prone to infections in those valves. They must be treated with oral antibiotics to prevent infection of valves by bacteria in the blood stream before routine dental work (including cleaning, filling, extractions), as well as before any kind of surgery. Those who have had valve replacement surgery require higher doses of antibiotics, which usually are given by injection.

Physical therapy, a brace or surgery often can correct scoliosis. Crowded teeth can be adjusted by an orthodontist. Early and regular eye examinations and treatment may lessen eye problems. Detached retinas can be restored by "bloodless surgery" with lasers. Hormonal treatment also may help with control of spinal curves and overall growth. Psychological counseling may be beneficial to selected patients.

Women with Marfan syndrome who become pregnant are considered to be high-risk, whether or not they have symptoms of an enlarged aorta. They face an increased possibility of aortic splitting during pregnancy.

What causes Marfan syndrome?

Other aortic aneurysms (thoracic or abdominal)