Pediatric Marfan Syndrome

Pediatric Marfan Syndrome

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Summary

Marfan syndrome affects the body’s connective tissues and is passed down in families (hereditary).

Expanded overview

Marfan syndrome is an inherited condition that causes problems with the body’s connective tissues. These are the fibers that support the organs and various structures throughout the body. This condition typically affects the heart, eyes, blood vessels and skeleton.

The effects of Marfan syndrome range from mild to severe. When the aorta (major blood vessel and main artery of the body) is impacted, the condition can be life-threatening.

Causes

This condition is caused by a genetic (passed down in families) defect that prevents the body from producing the protein that helps give connective tissue its usual elasticity and strength. In some cases, there is no family history of the condition and the gene mutation occurs spontaneously and randomly.

Symptoms

Signs and symptoms of Marfan syndrome can include:

  • Breastbone that sticks out or dips in
  • Curved spine
  • Flat feet
  • Heart murmurs (whooshing or swishing heartbeat)
  • Severe nearsightedness
  • Slender body
  • Tall stature
  • Teeth that appear crowded in the mouth
  • Unusually long arms, legs and fingers

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