Marfan Syndrome

By: Avery & Caleb

Definition of Disorder

  • Hereditary disorder of connective tissue
  • Results in abnormally long and thin digits and also frequently in optical and cardiovascular defects

Description of Symptoms

  • Long, thin limbs or digits
  • Scoliosis/ curvature of the spine
  • Cardiovascular defects

How is the Disorder Inherited / Causes?

  • Mutation in the genome Fibrillin-1/FBN1
  • Autosomal
  • Chromosome 15
  • Recessive

How is the Disorder Diagnosed & Treated?


  • medication: beta blockers and angiotensin-receptor blockers, which work to lower blood pressure and reduce wear on the blood vessels.
  • surgery: the composite valve graft, or the aortic valve-sparing procedure

This disorder may not be prevented.

It is not curable.

What Types of People/Groups are Likely to Have the Disorder?

  • can effect all girls and guys from any ethnic background
  • 75% of the time, this disorder is gene-inherited
  • A child born to a parent who has Marfan syndrome has a 50% chance of also having the disease
  • very uncommon (1 in every 5000)

Application of Research:

  • Constant medical research is developing for this disorder
  • Doctors follow around patients that are diagnosed with the marfan syndrome to learn more about the disorder and how it effects the life of the person.
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What Their Life is Like

  • avoid strenuous activities to keep heart rate down
  • frequent check ups and exams
  • risk of aortic dissection during pregnancy
  • may cause depression, anxiety, fear, and stress
  • may be prescribed daily antibiotics