Loeys Dietz Syndrome
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Test Information

Loeys-Dietz syndrome (LDS) is a dominantly inherited systemic connective tissue disorder characterized by multiple variable abnormalities of the skeletal, cardiovascular, and skin systems. Morbidity and mortality in LDS are largely due to vascular complications from aortic aneurysms and dissections. LDS shows clinical overlap with Marfan syndrome and vascular Ehlers-Danlos syndrome, but may require earlier or more aggressive treatment, respectively. About 75% of LDS are associated with mutations in TGFBR2. Genetic testing can confirm a clinical diagnosis of LDS and allow for accurate identification of presymptomatic mutation carriers within affected families.

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