Marfan syndrome

Background

• Hereditary connective tissue disorder
  • Caused by autosomal-dominant mutation in fibrillin gene

Clinical Features

• Tall stature, long extremities and digits, scoliosis, pectus excavatum
• Ligamentous laxity, hyperextensibility
• Myopia
• Dural ectasia (low back pain, paresthesias/numbness, bowel/bladder dysfunction)
• Mitral valve prolapse (~85%), mitral regurgitation

Increased risk of:

• Aortic dissection
  • Even higher risk in pregnancy
• Aortic regurgitation
• Severe mitral regurgitation: elongated chordae tendinae can occasionally rupture
• Subarachnoid hemorrhage
• Spontaneous pneumothorax
• Cervical spine injury (due to ligamentous laxity)
• Lens dislocation, retinal detachment