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Medical problems associated with Marfan Syndrome

(See also Publications)

Cardio-vascular system:

The most serious problems associated with Marfan syndrome involve the cardio-vascular system. The aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with Marfan syndrome. This widening is progressive and can cause tears (dissection)in the aorta wall. When the aorta becomes greatly widened, or tears, surgical repair is necessary. Leakage of blood back through the aortic valve can also be a problem and surgical repair may need to be done. In addition, the two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of blood back through the mitral valve, or, irregular heart rhythm.


  • Effects on the skeleton include curvature of the spine (scoliosis).
  • Pectus Carinatum (Pigeon) or Pectus Excavatum (Funnel) chest.
  • Tall stature (not always) and loose jointedness.
  • Arm span usually greater than height and legs and fingers are also long.
  • Patients may have flat feet.
  • Dural ectasia (bulging of the skin which protects the spine) can sometimes present a problem.


  • The major eye problem is dislocation of the ocular lens.
  • People with MFS are generally near-sighted or myopic.
  • They may suffer from retinal detachment.


Spontaneous collapse of the lung (pneumothorax) with breathlessness and chest pain may occur. This problem requires prompt attention, but is not usually life-threatening.

*Characteristics of the disorder vary greatly among affected individuals, even among the same family.

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