Living With Marfan Syndrome

Early diagnosis and advances in medical care have greatly improved the quality and length of life for people with Marfan syndrome. Finding and treating problems early can prevent or delay complications and improve quality of life.

Ongoing Health Care Needs

If you have Marfan syndrome, you should have regular checkups with specialists. These checkups include:

• Regular visits with a cardiologist to check heart function and look for changes in the aorta and valves that may need treatment. The frequency of visits will depend on how severely the heart and aorta are affected and how quickly your condition is changing.
• Annual checkups with an orthopedist to look for changes in your spine or breastbone that may need treatment.
• Regular eye exams with an ophthalmologist to find and treat eye problems early.

Regular dental care and good dental hygiene are important to prevent complications such as endocarditis. Endocarditis is an infection in the heart that can develop when a person has abnormal heart valves. You should take antibiotics before dental work to reduce the risk of endocarditis.

If you have Marfan syndrome, your doctor may suggest that you:

• Wear a medical alert ID.
• Learn to recognize symptoms of chest, back, or abdominal pain that could be a sign of aortic dissection. If aortic dissection occurs, you need emergency medical care at a hospital as soon as possible. Be prepared for this possibility and have a personal emergency plan in place.

Emotional and Psychological Needs

Having Marfan syndrome can be emotionally stressful. You and your family may find it difficult to accept and adjust to the disorder. Fortunately, information and support are available.

Your doctors can give you accurate information about Marfan syndrome and how to take care of it. They can answer your questions about the disorder and its treatment. The National Marfan Foundation also offers extensive information.

Social support may be available from family members and friends, other people with Marfan syndrome and their family members, and support groups. Peer counseling and support are available through the National Marfan Foundation.

Genetic counseling or other professional counseling (for example, from a social worker or psychologist) may be useful.

Physical Activity

Your doctor may recommend gentle, regular exercise. An exercise program can be tailored to your needs. In general, low-impact exercise can help improve physical strength and endurance, increase bone density, and lower blood pressure. But more strenuous activities may be dangerous, increasing the risk of damage to your aorta, eyes, and ligaments. The doctor can advise you about safe types of exercise, as well as activities to avoid, such as contact sports and competitive school sports.

People with Marfan syndrome often are tall and loose jointed. Young people with this type of body build may be encouraged to play basketball or other sports before they find out that they have Marfan syndrome. Testing of young people with this kind of body build—or with a family history of Marfan syndrome—may lead to early diagnosis and prevent complications.

Pregnancy in Women With Marfan Syndrome

Having Marfan syndrome increases the risk of serious complications during pregnancy because of the added stress on the heart. However, many pregnant women with Marfan syndrome have safe, normal deliveries.

If you are a woman with Marfan syndrome thinking about having a baby, talk to your doctor about the risks to you and your baby. For example:

• Your baby will have a 50 percent chance of inheriting the gene for Marfan syndrome.
• Pregnancy will put extra stress on your heart. Serious, even life-threatening problems such as rapid enlargement of the aorta or aortic dissection can happen. Your doctor can explain the risks and you should have a cardiac evaluation before you become pregnant.
• Certain medicines you are taking could cause problems for the pregnancy.

Couples considering pregnancy may want to seek genetic counseling if either person has Marfan syndrome.

If you become pregnant, you may want to seek care from a specialist familiar with Marfan syndrome or an obstetrician who specializes in high-risk pregnancies if a Marfan specialist is not available. You should have an echocardiogram every 6–10 weeks throughout pregnancy. Your doctor may recommend bed rest if aortic enlargement or aortic valve leakage occurs.

Anticoagulant medicines such as heparin and Coumadin® (warfarin) are often used to reduce the risk of blood clots in women with Marfan syndrome. If you are taking blood-thinning medications and become pregnant, or are planning on becoming pregnant, your doctor may want to change your medicines. Coumadin® (warfarin), for example, has been associated with birth defects when taken during the first trimester.

Your doctor may prescribe beta blockers if you have moderate or severe aortic dilation. Beta blockers do not increase the risk of birth defects or harm your unborn baby.