Loeys-Dietz Syndrome

Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder typically caused by mutations in 1 of 6 different genes. There are several different subtypes, most of which have unique clinical features. The different clinical features can be an early clue of disease and lead to imaging and genetic testing. Early diagnosis of LDS is key to improving patient survival. Once diagnosed, patients are imaged with CT or MRA to assess for aneurysms, dissection, or vascular tortuosity. Regular imaging surveillance is necessary to monitor disease progression. Therapy depends on the disease features. Outcomes are variable and depend on the type and severity of the syndrome features.