Overview
Marfan syndrome causes problems with connective tissues. These tissues include skin, muscles, blood vessels, ligaments, bones, and tendons. They join parts of the body and help hold the body together. Marfan syndrome is caused by a flaw in a gene that helps make connective tissue. The condition is often passed down in families. If someone in the family has Marfan syndrome, their close relatives may need to be examined by a doctor who is familiar with it.
Marfan syndrome may cause heart or aorta problems, a curved spine, vision trouble, and pain if the nerves are affected. Some people may have mild problems, while others have more serious symptoms. Most people with Marfan syndrome tend to be tall and thin with long arms, legs, fingers, and toes. They usually have loose joints.
Heart and blood vessel problems are among the most serious effects of Marfan syndrome. The heart's valves may leak. Part of the aorta may become weak and stretch, forming an aneurysm. The aorta carries blood to the upper and lower body. An aneurysm may cause the aorta to tear. A torn aorta is the most common cause of death in people with Marfan syndrome.
Doctors usually can treat the problems caused by Marfan syndrome. For example, you may take medicine to lower your heart rate and blood pressure, which reduces stress on the aorta. Meeting with a genetic doctor or counsellor can help you learn more about Marfan syndrome and what it means to your family.
Follow-up care is a key part of your treatment and safety. Be sure to make and go to all appointments, and call your doctor or nurse advice line (811 in most provinces and territories) if you are having problems. It's also a good idea to know your test results and keep a list of the medicines you take.
