Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Loeys-Dietz syndrome facts
- Loeys-Dietz syndrome is a recently-described connective tissue disorder that predisposes to the development of aortic aneurysms and other connective tissue defects.
- Loeys-Dietz syndrome is known to be a result of mutations in the TGF-beta-receptor I (TGFBR1) or II (TGFBR2) genes and is inherited in an autosomal dominant manner.
- Genetic testing is performed to identify the mutation and establish the diagnosis, while imaging studies are required for evaluation of potential aneurysms.
- Surgery to repair aortic aneurysms is essential for treatment because the aneurysms of Loeys-Dietz syndrome tend to rupture early.
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.
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