Marfan syndrome care at Mayo Clinic

Marfan syndrome: The importance of diagnosis and treatment

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.

Your Mayo Clinic care team

The Marfan Syndrome and Thoracic Aorta Clinic at Mayo Clinic's campus in Minnesota offers an experienced, integrated team of specialists that provide care for people of all ages with Marfan syndrome. There is a care team for children and another for adults.

Experienced staff at Mayo Clinic's campuses in Florida and Arizona also provide care for adults with Marfan syndrome and related disorders.

Advanced diagnosis and treatment

At Mayo Clinic, a multidisciplinary team of doctors trained in cardiovascular diseases, cardiac surgery, cardiac imaging, clinical genomics, ophthalmology and orthopedic surgery work together to confirm the diagnosis of Marfan syndrome, evaluate your symptoms and set up a treatment plan.

Cardiovascular care and genetics are the most commonly used services, but you may also need care for musculoskeletal system problems, vision problems and chronic pain.

Expertise and rankings

Each year, Mayo Clinic doctors treat hundreds of adults and children with Marfan syndrome and related disorders. Mayo Clinic surgeons have extensive experience in Marfan-related heart and aortic surgery.

At Mayo Clinic's Marfan Syndrome and Thoracic Aorta Clinic, doctors from a wide variety of specialties work together to confirm the diagnosis of Marfan syndrome, evaluate your symptoms and set up a treatment plan.

Mayo Clinic Children's Center in Rochester is ranked the No. 1 hospital in Minnesota, and the five-state region of Iowa, Minnesota, North Dakota, South Dakota and Wisconsin, according to U.S. News & World Report's 2022–2023 "Best Children's Hospitals" rankings.

Mayo Clinic in Rochester, Minnesota, Mayo Clinic in Phoenix/Scottsdale, Arizona, and Mayo Clinic in Jacksonville, Florida, are ranked among the Best Hospitals for orthopedics by U.S. News & World Report.

Learn more about Mayo Clinic's cardiovascular surgery, cardiovascular medicine and orthopedic surgery departments' expertise and rankings.

Locations, travel and lodging

Mayo Clinic has major campuses in Phoenix and Scottsdale, Arizona; Jacksonville, Florida; and Rochester, Minnesota. The Mayo Clinic Health System has dozens of locations in several states.

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Costs and insurance

Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people.

In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals, or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.

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Please contact your insurance company to verify medical coverage and to obtain any needed authorization prior to your visit. Often, your insurer's customer service number is printed on the back of your insurance card.

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Jan. 11, 2023