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Marfan Syndrome

Marfan syndrome is a genetic disorder that affects connective tissue, the fibers that support and anchors the organs and other structures in the body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People who are tall and thin with disproportionately long arms, legs, fingers and toes are affected with Marfan syndrome. The damage caused by Marfan syndrome can be mild or severe and when the heart or blood vessels are affected it becomes life-threatening. Marfan syndrome affects the aorta by causing it to stretch and can grow weak. This condition is called aortic dilation.

Marfan syndrome can affect any part of the body and so it causes a wide variety of complications:

  • Cardiovascular complications: This includes condition like aortic aneurysm, aortic dissection and valve malformation.
  • Eye complications: This includes lens dislocation, Early-onset glaucoma or cataracts and retinal problems.
  • Skeletal complications

Marfan syndrome features include

  • Tall and slender build
  • Disproportionate limbs which are long
  • A high, arched palate and crowded teeth
  • Heart murmurs
  • Extreme nearsightedness
  • Curved spine
  • Flat feet

Treatments for Marfan syndrome are

  • Aorta repair: If the diameter of the aorta enlarges quickly or reaches a dangerous size, an operation is done to replace a portion of the aorta with a tube made of synthetic material which prevents a life-threatening rupture.
  • Scoliosis treatment. For some children and adolescents a custom-made back brace is advised and in some cases surgery is suggested to straighten the spine.
  • Breastbone corrections. If a sunken breastbone affects breathing then surgery to repair the deformity is advised.
  • Eye surgeries. This surgery is done when parts of the retina comes loose from the back of the eye.