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Juan Bowen, M.D., Community Internal Medicine, Mayo Clinic: Hello. My name is Juan Bowen. I am the director of the Marfan and Thoracic Aorta Clinic at the Mayo Clinic. We're here to talk about the Marfan syndrome. The Marfan syndrome is an important condition that affects about 1 in 5,000 people. Some people think Abraham Lincoln may have had the Marfan syndrome, although it is not known. This condition affects the musculoskeletal system. It also affects the eye, and people can be quite nearsighted. But the most dangerous aspect of the Marfan syndrome is the heart damage that it can cause. This is primarily in the aorta, which is the central artery that leaves the heart and goes out to the rest of the body. In the Marfan syndrome, the aorta can progressively enlarge, and eventually there can be a crisis called a dissection, or even a rupture of the aorta. So it is important to diagnose the Marfan syndrome, and then is also important to treat patients with both medical therapy and, eventually, with even preventive surgical therapy. When the aorta reaches a certain size, preventive cardiac surgery can be lifesaving.
The Marfan syndrome is caused by a mutation in a gene called the fibrillin gene. So most cases are inherited. About 80% of Marfan patients have a family history where there are affected individuals in the family. But about 20% of the cases are new mutations in that individual.
At the Mayo Clinic, we have a specialized center that deals with the Marfan syndrome. Patients are seen by cardiologists. They're seen by a medical geneticist. And they undergo specialized imaging, including echocardiography and sometimes CT and MRI scanning. When they need preventive surgery, the Mayo Clinic is a major cardiac surgical center. And we offer preventive surgery to patients when the aorta reaches a certain size.
So in conclusion, the Marfan syndrome is an important condition. It is usually inherited. It has outward visible changes in appearance, such as being tall and having very long extremities. But it also has dangerous internal cardiovascular changes. And why should patients with Marfan syndrome consider the Mayo Clinic? I think the main reason is the experience that the Mayo Clinic has with this condition, but also the depth of expertise available in cardiac care and cardiac surgical care at the Mayo Clinic.
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