Living with Marfan's syndrome

Marfan's syndrome is a connective tissue disorder that often affects the heart.

Weakened fibrillin

Connective tissue is found throughout the body. It's a kind of glue for the cells, and it affects the shape and structure of organs. A protein called fibrillin is one of the main components of connective tissue.

People with Marfan's syndrome have a genetic abnormality that makes their fibrillin weaker than usual. This weakness can cause problems in the tendons, ligaments, blood vessels, cartilage, eyes and heart. Life expectancy for people with Marfan's is about 70 years.

Signs of Marfan's

Some of the common traits of Marfan's include:

tallness and thinness
long arms and legs
possible curving of the spine
long, slender fingers and toes

Marfan's can affect you in many ways. Some people may have few problems at all, while others may have more involved cases. Nonetheless, heart problems are a common Marfan's complication.

Marfan's and the heart

Typically, Marfan's can affect the heart in two ways:

The valves: There are four heart valves, and Marfan's can affect any of them. The most common complication occurs when blood leaks backward into a valve. This makes the heart work harder as it pumps the blood. In time, the heart may enlarge and the rhythm may become irregular. Treatment can include medication and sometimes surgery to repair valves.
The aorta: This is the main artery that carries blood away from the heart. It may become wider in people who have Marfan's. This can cause weakness, and it makes the wall of the artery more fragile and vulnerable to tearing. Often, the arterial weakness causes a kind of ballooning in the wall, or aneurysm.

People who have Marfan's generally need careful, regular monitoring by a cardiologist (heart specialist) to detect the development of an aneurysm in its early stages. A study published in the New England Journal of Medicine showed that planned surgery on aneurysms detected early had a significantly higher success rate than emergency surgery on aneurysms that required sudden attention.

With careful monitoring, proper treatment and lifestyle modifications, people with weakened aortas have a normal life span.

Lifestyle changes

Frequent, routine doctor visits, medication if necessary and a modified exercise plan are three hallmarks of life with Marfan's syndrome.

Doctor visits

In addition to yearly (or more frequent) visits with a cardiologist, people with Marfan's should have regular appointments with an ophthalmologist and routine monitoring of the skeletal system (especially during the childhood and teen years). Your doctors will talk with you about how frequently you need to be monitored.

Medications

For people whose Marfan's has affected the heart, medications may include

beta blockers to reduce blood pressure and stress on the arteries
blood thinners (Coumadin is the most common.)
antibiotics before dental and surgical procedures

Taking medications every day can be hard to get used to. Be sure to talk with your doctor about any side effects you have. If you're finding it difficult to take the medications, talk with your doctor about that too. It's extremely important to communicate about any difficulties you have so you and your doctor can address them together.

Exercise

The main thing to remember about exercise is that it shouldn't be too strenuous and it shouldn't involve contact sports. These kinds of activities increase the risk of damaging the aorta and the eyes. For some people, these restrictions are easy to handle. They're content with limiting their activity to things like walking, leisurely biking and swimming, golf and bowling.

For other people, the limitations are tough to take. Professional athletes and students on school teams may become depressed or angry when they learn they can no longer take part in activities they love. If this is the case for you or someone in your family, be sure to address it. You may want to schedule some extra time to talk with your doctor about this issue alone. Or it might help to talk with a counselor.