Key Points

• Marfan syndrome is a connective tissue disorder. Connective tissue is the strong, elastic tissue that holds the parts of the body together and supports body structures.
• In Marfan syndrome, the connective tissue is weakened due to a defect in an important protein called fibrillin 1. The defective fibrillin 1 also affects the growth and development of many of the organs of the body.
• Marfan syndrome is usually inherited (passed from parent to child). It takes only one copy of the gene that causes Marfan syndrome to be born with the condition. Sometimes a chance gene mutation occurs that causes Marfan syndrome.
• People who have Marfan syndrome are usually tall with a slender, loose-jointed body. However, it should be noted that short, heavy people also can have Marfan syndrome.
• The signs and symptoms of Marfan syndrome vary. Some people have only mild signs and symptoms. Others have severe signs and symptoms with serious complications.
• Doctors diagnose Marfan syndrome according to guidelines called the Ghent criteria, which are based on signs and symptoms that are common in people with this disorder. The Ghent criteria are based on a detailed personal and family medical history, physical exam, and results of tests of the heart and eyes.
• Complications from Marfan syndrome can include problems with the heart and blood vessels, including leaky valves and an enlarged aorta. Chest wall deformities and a curved spine can occur. The eyes, lungs, and skin also can be affected.
• A serious complication of Marfan syndrome is aortic dissection. In aortic dissection, a tear occurs in the wall of the aorta, and the layers of the wall separate as blood leaks into the wall of the aorta. This can lead to blockage of blood flow through the aorta. Aortic dissection is a life-threatening medical emergency, but it can be treated if caught early.
• Treatment for people with Marfan syndrome may include medicines; surgery; lifestyle changes related to physical activity; regular checkups of the heart, eyes, and skeleton; and/or the use of back braces or other prosthetic devices.
• Marfan syndrome is a lifelong condition that cannot be cured. However, early diagnosis and treatment, combined with lifestyle changes, can limit and prevent complications, lengthen life, and improve the quality of life.