Marfan syndrome: The importance of diagnosis and remedy

Juan Bowen, M.D., Neighborhood Internal Treatment, Mayo Clinic: Hi there. My title is Juan Bowen. I’m the director of the Marfan and Thoracic Aorta Clinic on the Mayo Clinic. We’re right here to talk about the Marfan syndrome. The Marfan syndrome is a an essential condition that has effects on about 1 in 5,000 other folks. Some other folks deem Abraham Lincoln could well simply have had the Marfan syndrome, even though it is now not identified. This condition impacts the musculoskeletal system. It also impacts the seek, and other folks will likely be reasonably nearsighted. But basically the most unhealthy ingredient of the Marfan syndrome is the center rupture that it’ll motive. This is basically in the aorta, which is the central artery that leaves the center and goes out to the relaxation of the body. Within the Marfan syndrome, the aorta can step by step create bigger, and in the waste there will likely be a crisis known as a dissection, or maybe a rupture of the aorta. So it is miles serious to diagnose the Marfan syndrome, and then is also essential to treat patients with every scientific remedy and, eventually, with even preventive surgical remedy. When the aorta reaches a positive size, preventive cardiac surgery will likely be lifesaving.

The Marfan syndrome is precipitated by a mutation in a gene known as the fibrillin gene. So most conditions are inherited. About 80% of Marfan patients have a family history the achieve there are affected people in the family. But about 20% of the conditions are original mutations in that person.

On the Mayo Clinic, we have a genuinely fair correct heart that offers with the Marfan syndrome. Sufferers are viewed by cardiologists. They’re viewed by a scientific geneticist. They veritably undergo genuinely fair correct imaging, including echocardiography and most continuously CT and MRI scanning. After they need preventive surgery, the Mayo Clinic is a most essential cardiac surgical heart. And we provide preventive surgery to patients when the aorta reaches a positive size.

So in conclusion, the Marfan syndrome is a an essential condition. It is miles on the complete inherited. It has outward visible changes in appearance, similar to being mighty and having very long extremities. But it also has unhealthy interior cardiovascular changes. And why could well simply mute patients with Marfan syndrome take note of the Mayo Clinic? I deem the most essential motive is the trip that the Mayo Clinic has with this condition, however also the depth of craftsmanship available in cardiac care and cardiac surgical care on the Mayo Clinic.

Dec. 03, 2022



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