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
- Chromosome 15
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.
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