Marfan syndrome is an inherited disease that affects the connective tissue. Connective tissue is the most abundant tissue in the body and is a vital component to supporting the body's organs. Its primary purpose is to hold the body together and provide a framework for growth and development. It provides the strength and support to tendons, cartilage, heart valves and many other parts of the body, as well as strength and elasticity to the blood vessels.

For people with Marfan syndrome, the chemical makeup of the connective tissue isn't normal and as a result is not as strong as it should be.

Because connective tissue is found throughout the body, Marfan syndrome can affect many parts, including the bones, eyes, heart and blood vessels, nervous system, skin and lungs.

What Causes Marfan Syndrome?

Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin, and the elastic fibers, major an essential components of connective tissue that appears to contribute to its strength and elasticity.

In most cases, Marfan syndrome is inherited. The pattern is called "autosomal dominant," meaning it occurs equally in men and women and can be inherited from just one parent with the disorder. People with Marfan syndrome have a 50% chance of passing along the disorder to their children. In rare cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a "variable expression" genetic disorder, since everyone with Marfan syndrome has the same defective gene, but not everyone experiences the same symptoms to the same degree.

Marfan syndrome is present at birth. However, the condition may not be diagnosed until adolescence or young adulthood. It is fairly common, affecting 1 in 5,000 Americans. It is found in people of all races and ethnic backgrounds.

What Are the Signs of Marfan Syndrome?

Marfan syndrome requires a treatment plan that is individualized to the patient's needs. Some people may not require any treatment, just regular follow-up appointments with their doctor. Others may need medications or surgery. The approach depends on the structures affected and the severity.

Lifestyle issues

Follow-up. Routine follow-up including cardiovascular, eye and orthopedic exams, especially during the growing years. Your doctor will discuss the frequency of follow-up with you.
Activity. Activity guidelines vary depending on the extent of the disease and symptoms. Most people with Marfan syndrome can participate in some type of physical and/or recreational activities. Those with dilation of the aorta will be asked to avoid high intensity team sports, contact sports and isometric exercises (such as weight lifting). Ask your cardiologist about activity guidelines for you.
Pregnancy. Genetic counseling should be performed prior to pregnancy because Marfan syndrome is an inherited condition. Pregnant women with Marfan syndrome are also considered high-risk cases. If the aorta is normal size, the risk for dissection is lower, but not absent. Those with even slight enlargement are at higher risk and the stress of pregnancy may cause more rapid dilation. Careful follow-up, with frequent blood pressure checks and monthly echocardiograms is required during pregnancy. If there is rapid enlargement or aortic regurgitation, bed rest may be required. Your doctor will discuss with you the best method of delivery with you.
Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery are at increased risk for bacterial endocarditis. This is an infection of the heart valves or tissue which occurs when bacteria enters the blood stream. To prevent this, antibiotics should be given prior to dental or surgical procedures. Check with your doctor about the type and amount of antibiotics you should take. A wallet card may be obtained from the American Heart Association with specific antibiotic guidelines.
Emotional considerations. Learning you have a genetic disorder, such as Marfan syndrome, may affect you in many ways. You may feel angry, sad or scared. This can be related to the knowledge of having a disease. You may need to make changes in your lifestyle and adjust to having careful medical follow-up the rest of your life. Or there may be financial concerns. It may be also concerning to think about risk to future children. It is important to seek medical care from a physician who has experience in treating Marfan syndrome. Get accurate information. It may also help to seek genetic counseling to help understand the disease and your risk for passing it on to your children. The National Marfan Foundation can help provide you with information and support.