Loeys-Dietz Syndrome: What You Need to Know

• 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

Learn more about Loeys-Dietz syndrome in our Health Library.

Meet Dr. Harry (Hal) Dietz, whose discovery of genes for Loeys-Dietz and Marfan syndromes is contributing to treatments for these and other conditions..

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