Marfan Syndrome

  • Etiology: vasculopathy of fibrillin-1
  • Imaging: affects aortic root / thoracic aorta / abdominal aorta and pulmonary arteries and vertebral arteries, aortic dimension > 5 cm leads to aortic root replacement
  • Complications: vessel tortuosity, aneurysm, dissection, rupture, mitral valve prolapse
  • Clinical: skeletal and ocular manifestations, 80% have morbidity related to aortic aneurysm and dissection

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.