Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a genetic condition that affects connective tissue and causes changes in the heart, blood vessels, bones, joints, skin, and internal organs. Dr. Bart Loeys and Dr. Hal Dietz first identified the syndrome at the Johns Hopkins University School of Medicine in 2005.
Symptoms of Loeys-Dietz Syndrome
Doctors look for four key signs that, together, point to LDS:
1. Aneurysms — bulging or widening of arteries, most often at the aortic root (where the aorta leaves the heart)
2. Arterial tortuosity — arteries that are twisted or spiraled, especially in the neck
3. Hypertelorism — widely spaced eyes
4. Bifid (split) or broad uvula — the small tissue hanging at the back of the throat is split or larger than usual​
How is Loeys-Dietz Syndrome Diagnosed?
Doctors confirm an LDS diagnosis through a combination of physical exam, family medical history, genetic testing and full-body artery imaging.
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Spotting the signs: A doctor gets suspicious when someone has a mix of certain features — a widened aorta, twisty arteries, wide-set eyes, a split in the palate or uvula, loose joints, or thin skin. A widened aorta is the most common sign, showing up in almost everyone with LDS.
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Genetic testing: If LDS seems likely, the person is sent to a geneticist for a blood test. The test looks for changes in a group of specific genes (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, and TGFB3). It's important to note that a negative gene test doesn't fully rule out LDS — testing isn't perfect.
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Checking family members: Once a specific gene change is found, close relatives (parents, siblings, kids) can be tested for the same genetic change. They're often given a heart scan right away, just to be safe, while waiting on results.
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Confirming it: For most people, doctors want to see two things together: a disease-causing gene change and matching physical symptoms. If someone already has a family member confirmed with LDS, the gene test alone can confirm it — even before symptoms show up.
What treatment is available for
Loeys-Dietz Syndrome?
There is currently no specific cure for Loeys-Dietz Syndrome. Treatment is focuses on managing symptoms through blood-pressure medication and regular monitoring of the heart, blood vessels, and other affected organs, preventative surgery, as well as addressing any associated health issues, such as scoliosis, joint problems and allergy-related symptoms.
​Learn more about LDS management through the Loeys-Dietz Syndrome: 2026 Updated Care Management Primer.
Medication
Beta-blockers and/or angiotensin receptor blockers (ARBs, like losartan) to lower blood pressure and reduce stress on the arteries​​
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Regular Monitoring
Ongoing scans of the entire arterial tree to watch for new or growing aneurysms; echocardiogram, CT & MRI
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Surgery
preventative surgery to repair the aortic root and ascending aorta before a tear can happen.​​​
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Activity Guidance
Physical activity that doesn't raise blood pressure
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Learn more about LDS at the Loeys-Dietz Syndrome Foundation
Sources
Cleveland Clinic. (2025, April 21). Loeys-Dietz syndrome (LDS): Symptoms & prognosis. https://my.clevelandclinic.org/health/diseases/23237-loeys-dietz-syndrome Johns Hopkins Medicine. (n.d.). Loeys Dietz syndrome. https://www.hopkinsmedicine.org/health/conditions-and-diseases/loeysdietz-syndrome Loeys-Dietz Syndrome Foundation. (n.d.). What is LDS? Medical information. https://www.loeysdietz.org/en/medical-information MacCarrick, G., Black, J. H., Bowdin, S., El-Hamamsy, I., Frischmeyer-Guerrerio, P. A., Guerrerio, A. L., Sponseller, P. D., Loeys, B., & Dietz, H. C. (2014). Loeys–Dietz syndrome: A primer for diagnosis and management. Genetics in Medicine, 16(8), 576–587. https://pmc.ncbi.nlm.nih.gov/articles/PMC4131122/ The Marfan Foundation. (2021, November 19). Loeys Dietz syndrome: Signs & symptoms. https://marfan.org/conditions/loeys-dietz/ Loeys, B. L., & Dietz, H. C. (2008 Feb 28 [Updated 2024 Sep 12]). Loeys-Dietz syndrome. In M. P. Adam, S. Bick, G. M. Mirzaa, et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1133/
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