Marfan Syndrome

Heritable Disorder

What is Marfan Syndrome?

Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Signs and Symptoms

  • very tall, slender, loose-jointed
  • arms, legs, fingers, and toes may be disproportionately long
  • long, narrow face, roof of mouth may be arched
  • curvature in spine
  • skin changes
  • protruding or indented sternum
  • dislocation of one or both lenses of the eyes
  • problems associated with the heart and blood vessels
  • dural ectasia
  • pleiotropic manifestations


Marfan syndrome is an inherited connective tissue disorder transmitted as an autosomal dominant trait. Mutations in the gene for fibrillin-1 (FBN1) cause it.


  • a multidisciplinary approach is necessary
  • information about family members that may have had related problems
  • chest x-ray
  • Electrocardiagram (ECG)
  • Echocardiagram
  • TEE, MRI, CT


Marfan Syndrome has no cure, but it can be treated.

  • surgery
  • treatment
  • follow-up appointments

Medications are not used to treat Marfan Syndrome, only to prevent or control complications.


If unrecognized or left untreated, the average life expectancy for a patient with Marfan Syndrome is 45 years. However, if properly managed, patients with Marfan Syndrome can have a normal life expectancy.


Marfan Syndrome affects 1 in 10,000 to 20,000 people. It has been found in people of all races and ethnic backgrounds.