Based on a review of medical records and experience with new patients, the Johns Hopkins team discovered that people with wide-set eyes, a cleft palate or split uvula (the tissue that hangs down in the back of the throat), and a torturous arrangement of the body's blood vessels also have aggressive swelling of the aorta, the body's biggest blood vessel. In these patients, the aorta breaks at a much smaller size than it does in people with Marfan syndrome or other causes of aneurysm, making identifying these patients critical, the researchers report.
"The severity of the physical traits can vary, but because the aorta ruptures so much sooner than one would expect, patients need to be identified and treated as early as possible and much sooner than is standard medical practice for other causes of aortic aneurysms," says Harry Dietz, M.D., director of the William S. Smilow Center for Marfan Syndrome Research at Johns Hopkins, professor in the McKusick-Nathans Institute of Genetic Medicine, and a Howard Hughes Medical Institute investigator.
The syndrome-defining traits can have a wide range of severity, and some other abnormalities, including congenital heart and brain defects and skeletal abnormalities such as early fusion of the bones of the skull or curvature of the spine, are seen in some patients. "It's too soon to know how common or rare the syndrome might be," says Dietz, "but we know that surgery to fix the aneurysm works if patients are identified in time."
Sadly, one patient who came to the clinic with widely spaced eyes and aortic aneurysm died just a
Contact: Joanna Downer
Johns Hopkins Medical Institutions