What is Marfan syndrome?

Marfan syndrome is a disorder of the connective tissue - the tissue that holds the body together. It can be inherited or can happen to individuals without other family members being affected. In Marfan syndrome, the defective connective tissue does not perform as it should. This can affect the joints, eyes, and blood vessels. If this results in enlargement of the main body artery (the aorta), it can have dangerous implications for heart health. Part of the evaluation for Marfan syndrome involves assessing the valves of the heart and the aorta, typically using a special painless ultrasound test called an echocardiogram

Marfan syndrome is a genetic disorder that causes abnormal development of fibrillin, which is a component of the connective tissue. Although the disease may range from mild to severe, many patients with Marfan syndrome are very tall, thin, long-limbed, and loose-jointed. The most serious risks associated with the disease occur in the heart and aorta: weakness of the connective tissues puts patients with Marfan syndrome at risk for aortic aneurysm, heart valve disease, and aortic dissection. The reason is that there is a structural weakness in the wall of the aorta of a protein called fibrillin. Fibrillin helps maintain the integrity of the aorta when it is exposed to high pressure. Its absence allows for aneurysms to develop and dissections to occur at early ages. It is important to realize that any change in size of an aortic root aneurysm in a patient with Marfan syndrome is an indication to meet with an aortic specialist. When surgery is indicated, often the operation can be performed as a valve-sparing procedure, with excellent long-term results.

Marfan's syndrome is a genetic disorder of the connective tissues that can affect the skeleton, eyes, heart, or blood vessels. People with Marfan's syndrome are at risk of developing a bulge in a weakened spot in the aorta, the main blood vessel that carries blood from the heart to the rest of the body; this bulge is called an aneurysm. The aorta can also become dilated or enlarged. An aneurysm or dilation makes the aorta prone to dissection (tearing) or rupture, which can be fatal.

Marfan syndrome, also called arachnodactyly, is a genetic disorder that causes the connective tissues to become weak and dysfunctional. These tissues, which include tendons, ligaments, cartilage, and bone, are important because they support the body and provide a framework for growth and development. Because connective tissues are found throughout the body, symptoms may develop in many body organs, including the eyes, bones, heart, blood vessels, skin, lungs, and nervous system.

The severity of disease symptoms varies from mild to severe. For instance, Marfan syndrome can be life threatening if it affects the aorta, the main artery that carries blood from the heart to the rest of the body. In such cases, the disorder causes the walls of the aorta to become weak, increasing the chance that the artery will enlarge, tear, or rupture (break open). In other cases, patients may not experience any noticeable symptoms.

Physical characteristics commonly associated with Marfan syndrome include a slender and tall body, loose joints, narrow face, and spinal or chest wall abnormalities, such as scoliosis. Some medical historians believe that Abraham Lincoln may have had Marfan syndrome, because he had many of these traits. However, Lincoln's physical features alone are not enough to determine whether he had the disorder.

Researchers estimate that Marfan syndrome affects at least one out of 5,000 people in the United States.

Although Marfan syndrome is a serious and potentially life-threatening condition, patients are able to live long, healthy lives with proper treatment. There is currently no cure for the disorder. Instead, treatment focuses on managing symptoms and preventing complications. Most people with Marfan syndrome are able to have children, although complications may occur during pregnancy, and parents may pass on the condition to their children.

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Marfan's syndrome is an inherited disorder that causes problems in the connective tissues of the blood vessels, heart and eyes, and affects the muscles, ligaments, bones and tendons. People who have Marfan's syndrome tend to be tall and thin with long arms, legs, fingers and toes.

Because of problems with their connective tissues, people who have Marfan's syndrome are at risk of:

• Aortic heart valve problems, including aortic dissection.
• Eye problems, such as dislocation of the lens of the eye, which can lead to a serious eye condition called glaucoma.
• A sleep disorder in which a person regularly stops breathing (sleep apnea) because of weak muscles in the throat.

Treatment for Marfan's syndrome includes treating specific problems related to the connective tissue disease, such as heart problems.