Pediatric Marfan Syndrome

  • Etiology: Vasculopathy of fibrillin-1
  • Imaging:
    — Aortic dilation primarily of aortic root and ascending aorta
    — Aortic valve regurgitation
    — May also affect abdominal aorta and pulmonary arteries and vertebral arteries
  • DDX:
  • Complications: Vessel tortuosity, aneurysm, dissection, rupture, mitral valve prolapse and regurgitation
  • Treatment: Aortic dimension > 5 centimeters leads to aortic root replacement
  • Clinical:
    — 80% have morbidity related to aortic aneurysm and dissection
    — Skeletal and ocular manifestations

Radiology Cases of Marfan Syndrome

CXR of Marfan syndrome
CXR AP shows a prominent aortic arch and left lateral border of the aorta due to aortic ectasia.
CT of aortic dilation in Marfan syndrome
Coronal CT with contrast of the chest shows marked dilation of the aortic root and ascending aorta.