Pediatric Loeys-Dietz Syndrome

• Etiology: Vasculopathy due to connective tissue disorder involving transforming growth factor pathway which predisposes to aortic and arterial aneurysms
• Imaging:
  — Widespread arterial involvement leading to vascular tortuosity and aneurysm with aggressive course
  — Aortic dissection and rupture occurs earlier in the course of Loeys-Dietz syndrome and also at smaller aneurysm sizes than other aortopathies
• DDX:
• Complications:
  — Vascular tortuosity is strong predictor of adverse outcome
  — Vessel aneurysm, dissection, rupture
• Treatment:
• Clinical: Hypertelorism, bifid uvula, cleft palate

Radiology Cases of Loeys-Dietz Syndrome