Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's.
Marfan syndrome is an inherited disorder that affects connective tissue the fibers that provide the framework and support for your body. Connective tissue is not a single entity, but a catch-all term for everything in your body that keeps you from falling apart. The familiar tendons and ligaments keep bones and muscles together, but other connective tissue is more obscure, like the elastic fibers in the aorta that keep it soft and rubbery.
Marfan syndrome affects all of these structures. It only happens to about 1 in every 5,000 people. People with Marfan syndrome have loose tendons and ligaments, less elasticity in the aorta, and longer arms and legs. In the Marfan syndrome, the walls of the major arteries are weakened. The aorta, the main artery that leaves the heart, often is affected. When this occurs, it gets bigger, which can weaken the inner aortic wall. Under strenuous exertion, the aorta wall can tear. Blood can leak through these tears into the aortic wall, separating its layers a process called aortic dissection.
Another problem that may occur if the aortic wall weakens is that an aneurysm may form. Marfan syndrome can be mild to harsh, and the symptoms can vary. People with Marfan syndrome are frequently very tall, thin and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system and lungs. Different people may need different types of treatment. Some people may not require treatment, but others may need drugs that lower heart rate, blood pressure or both.
If dural ectasia (swelling of the covering of the spinal cord) develops, medication may help minimize any associated pain. Anticoagulant medications such as warfarin are needed after artificial heart-valve placement. Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members. Annual evaluations are important to detect any changes in the spine or sternum. This is particularly important in times of rapid growth, such as adolescence. A serious deformity can not only be disfiguring but can also prevent the heart and lungs from functioning properly.
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