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What is Loeys-Dietz syndrome?
Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children. In Loeys-Dietz syndrome, the aortic aneurysms are prone to rupture at a smaller size than other aneurysms, putting children with Loeys-Dietz at great risk for dying if the aneurysm is not identified and treated early.
The syndrome is named for pediatric geneticist Harry Dietz, director of the William S. Smilow Center for Marfan Syndrome Research at Johns Hopkins University and his colleague, Bart Loeys, who characterized the genetic and physical markers of the syndrome together with Dr. Dietz.