Do You Have Marfan Syndrome?

by: J. Davis

Are you experiencing...

  • Longer arms and legs
  • Tall and thin body figure
  • Curved spine
  • Abnormally shaped chest
This disorder is caused primarily by a substitution mutation in the FBN1 gene on chromosome 15 that tells the body how to make a protein called fibrillin-1. This causes an increase in a protein called TGF-B which will lead to problems in connective tissue throughout the body. Extreme symptoms include aortic enlargement, which can be life-threatening. Many symptoms are not present at birth and are sometimes are not noticeable until adulthood.

How you may have gotten this disorder

  • This disorder is autosomal dominant
  • 1 in 5,000 people are diagnosed with Marfan Syndrome
  • 3/4 people with Marfan inherit it
  • 50% chance of someone with Marfan will pass it down each time they have a child


Tests include:

  • Thorough physical exam of eyes, heart and blood vessels, and muscle and skeletal systems
  • Family history
  • Chest X-Ray
  • Electrocardiogram and echocardiogram to check heart rhythm problems


  • Beta blocker- decreases forcefulness of heartbeat and pressure in arteries
  • Treatments individualized for patient's needs
  • Those with Marfan should receive early and accurate diagnosis and treatments for better outcomes