Marfan Syndrome

Key Features

• Skeletal abnormalities (Ghent criteria)

• Lens dislocation

• Dilation of the aortic root

• Dural ectasia

Clinical Findings

• Positive family history

• Suspicious skeletal findings

• Ophthalmologic complications

• Spontaneous pneumothorax

• Dysrhythmias may be present

• Characteristic facies

  • Long and thin

  • Down-slanting palpebral fissures

  • Malar flattening and retrognathia

• Palate is high arched, and dentition is often crowded

Diagnosis

• Clinical; based on the Ghent criteria (available at: http://www.genereviews.org).

• Genetic testing is available

• Differential diagnosis

  • Homocystinuria

  • Lujan syndrome

  • Ehlers-Danlos syndrome

  • Stickler syndrome

  • Beals syndrome

  • Shprintzen-Goldberg syndrome

  • Aneurysm-osteoarthritis syndrome

  • Syndromic thoracic aortic aneurysms

  • Loeys-Dietz syndrome

• Families and practitioners seeking additional information about Marfan syndrome can be referred to the National Marfan Foundation (http://www.marfan.org).

Treatment

• Surveillance for and appropriate management of the ophthalmologic, orthopedic, and cardiac issues

• Prophylactic β-adrenergic blockade can slow the rate of aortic dilation and reduce the development of aortic complications

Outcome

Follow-Up

• Serial echocardiograms are indicated to diagnose and follow the degree of aortic root enlargement, which can be managed medically or surgically, in more severe cases

• Regular ophthalmologic surveillance for lens dislocation is necessary

Complications

• Skeletal problems including scoliosis are progressive

• Astigmatism and myopia are very common

• Mitral valve prolapse

• Progressive aortic root dilation, which may lead to aneurysmal rupture and death

• Progressive or acute valvular (aortic more frequently than mitral) incompetency

Reference