Vascular CT Appearances

Loeys-Dietz Syndrome (LDS) CT Findings

• Aortic root aneurysms
• Arterial tortuosity
• Pulmonary artery dilatation
• Coronary and pulmonary artery aneurysms
• Tortuous carotid and vertebral arteries
• Aortic dissection
• Patent ductus arteriosus
• Atrial septal defects
• Mitral valve prolapse

Other Information About Loeys-Dietz Syndrome (LDS)

Etiology:

• Mutations in 1 of 5 genes creates the 5 different types of LDS
  • LDS-I: TGFβR1
  • LDS-2: TGFβR2
  • LDS-3: SMAD-3
  • LDS-4: TGFβ2
  • LDS-5: TGFβ3

Epidemiology:

• LDS has no known prevalence among a specific race or sex

Presentation:

• Orbital hypertelorism
• Bifid or broad uvula
• Clubfoot
• Cleft chin and/or palate
• Translucent skin
• Aortic aneurysms
• Dissection of vessel tortuosity

Prognosis:

• Patients should be monitored for cardiovascular complications

Related Pearls: Genetic Vascular Disease