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What is Loeys-Dietz syndrome (LDS)?

Loeys-Dietz syndrome (LDS) is a genetic disorder that shares similarities with Marfan syndrome. It affects proteins called transforming growth factor beta receptor 1 and 2, which are also part of the connective tissue found throughout the body. Some features of LDS overlap with Marfan syndrome, including aortic aneurysm or dissection, leakage of the mitral valve, loose flexible joints, and others.

Other features of LDS are unique, such as arteries that twist and wind, aneurysms in arteries other than the aorta, widely spaced eyes, cleft palate, wide or split uvula, heart defects including atrial septal defect, bicuspid aortic valve, and many other features. These patients have very unstable aortic tissue and should have a surgical evaluation as soon as the diagnosis of LDS is made.

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