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Conditions We Treat: Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a genetic disorder of the connective tissue — cells that support or connect different structures in the body. Loeys-Dietz syndrome affects bones, blood vessels, skin, heart and other organs. Common signs include wide-set eyes, aortic or arterial aneurysm or dissection and a variety of skeletal, skin and digestive features.

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Loeys-Dietz Syndrome: What You Need to Know

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  • Diagnosis involves an echocardiogram, consideration of a wide range of physical features and genetic testing.
  • Different people have different combinations of symptoms.
  • Because the syndrome was just identified in 2005, many doctors may not be aware of its existence. Speak to a genetic counselor if your doctor suspects Loeys-Dietz syndrome.
  • Goals of treatment are to reduce stress on the aorta and arteries, reduce bone and muscle complications and pain, and treat digestive and allergic issues. In some cases surgery may be necessary.

Although Loeys-Dietz syndrome shares features with other connective-tissue disorders such as Marfan, Shprintzen-Goldberg and Ehlers-Danlos syndromes, it stems from different genetic mutations. The conditions are also managed differently.

Patient Resources


Why choose Johns Hopkins Heart and Vascular Institute for treatment of Loeys-Dietz Syndrome?

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Our Physicians

Our physicians are world experts in the diagnosis and treatment of Loeys-Dietz syndrome.

For Cardiovascular Complications

For Orthopaedic Complications


For Digestive Complications

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Our Specialty Centers

The Johns Hopkins Center for Inherited Diseases counsels and screens patients and their families with Loeys-Dietz syndrome. Dr. Harry Dietz of the Center for Inherited Diseases was involved in identifying this condition.

Learn more about the Center for Inherited Diseases.

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Our Research

Johns Hopkins researchers found that people with Loeys-Dietz syndrome are prone to low bone density. This finding helps patients better protect themselves and provides researchers with avenues for new therapies.

Read more about this research.