Key Points

• Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.
• Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects various parts of the body, it can cause a number of complications. In some cases, the complications are life threatening.
• Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.
• Most people who have Marfan syndrome inherit the altered gene from a parent. In some cases, Marfan syndrome isn't inherited.
• Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, children, and people of all races can have the condition. If you have Marfan syndrome, each of your children has a 50 percent chance of having the altered gene that causes the condition.
• Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family. Complications of the condition also vary, depending on how the condition affects your body.
• Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and the results of tests. He or she also will consult a set of guidelines, called Ghent criteria, used to diagnose Marfan syndrome.
• Marfan syndrome has no cure. However, treatments can help delay or prevent complications of the condition (especially when started early). Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms.
• New advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have Marfan syndrome to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.
• If you have Marfan syndrome, talk to your doctor about ongoing care and what types of physical activity are safe for you. If you're thinking about becoming pregnant, you should discuss the possible risks with your doctor.
• If you smoke, quit. People who have Marfan syndrome are at increased risk for lung problems. Smoking increases the risk even more. Talk to your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.