Loeys-Dietz Syndrome

Medical Author: Melissa Conrad Stöppler, MD
Medical Editor: Jay W. Marks, MD

• What is Loeys-Dietz syndrome?
• What are the signs and symptoms of Loeys-Dietz syndrome?
• Is Loeys-Dietz syndrome inherited?
• What causes Loeys-Dietz syndrome?
• How is Loeys-Dietz syndrome diagnosed?
• How is Loeys-Dietz syndrome treated?

What is Loeys-Dietz syndrome?

Loeys-Dietz syndrome is a recently-described syndrome 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.

What are the signs and symptoms of Loeys-Dietz syndrome?

Aortic aneurysms and abnormal organization of blood vessels (widespread tortuosity of the arteries in locations other than the aorta) are the hallmarks of Loeys-Dietz syndrome, but many affected children have characteristic physical and facial features that may be the first abnormality to be recognized. Physical characteristics of Loeys-Dietz syndrome include early fusion of the skull bones (known as craniosynostosis), widely spaced eyes, and cleft palate or split uvula. In some individuals with Loeys-Dietz syndrome, other physical abnormalities have been noted, including defects at birth in the heart and brain, osteoporosis (weak bones), and defects of the spine. It is important to note that the severity of the visible physical characteristics varies among affected individuals, but the danger of rupture of aneurysms remains the same no matter how severe or mild the physical characteristics are.

In many cases pediatricians may be able to recognize the characteristic facial features of Loeys-Dietz syndrome, and on this basis suggest further evaluation for the presence of aortic aneurysms and vascular irregularities. Other people with the syndrome are recognized when they seek medical assistance for other reasons, such as heart murmurs or a family history of Marfan syndrome or another condition that may cause aortic aneurysms.

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