Marfan Syndrome

Maggie Boles

What is Marfan Syndrome?

Marfan syndrome is an inherited disorder that is caused by a mutation in the gene which codes for the body to make fibrillin-1. A protein called transforming growth factor beta is overproduced causing problems in the connective tissues. The connective tissues helps the body grow and develop, so when disturbed by TGF-β the connective tissue will cause certain growth defects.

What are the symptoms of Marfan Syndrome?

Because connective tissue is found throughout the body, there are a lot of symptoms which vary throughout the body.


Symptoms may include:

Legs:

  • Flat feet
  • Extremely long legs

Eyes:

  • Blurred vision
  • Nearsightedness
  • Small pupils

Chest:

  • Bulging chest
  • Sunken chest
  • Collapsed lung

Mouth:

  • Raised roof of the mouth
  • Crowded teeth

Heart:

  • Mitral valve prolapse (improper closing of left upper chamber and the left lower chamber)
  • Murmur (unusual heartbeat sound)

Pain:

  • In the back

Other:

  • Stretch marks
  • Tall build
  • Extreme tiredness

What are some difficulties with Marfan Syndrome?

If Marfan Syndrome has affected your eye you most likely could have retinal problems, dislocation of the lens, or cataracts. Retinal problems are mainly caused when there is a detachment or tear in the retina, which lines the back of your eye. A retinal tear will cause you to see dark figures or will slowly decrease your vision. Lens dislocation occurs when the lens in your eye becomes out of place because of the weaken supporting structures. Cataracts are common in people with Marfan Syndrome. The are cloudy areas in the eye's lens.


Scoliosis is often caused by Marfan Syndrome because it increases the probability of abnormal curves in the spine. Fewer ribs are found in people with Marfan Syndrome because of the interference with the proteins.

A more dangerous complication of Marfan Syndrome involves the heart and blood. An enlarged aorta (pictured on the right) could allow blood to leak back into the heart causing a shortness in breath and a pounding heartbeat. The valves in your heart can be malformed which makes the heart work harder to spread blood to your body. Overworking your heart can eventually lead to heart failure.


Picture:

"Sudden Death in Athletes." Sudden Death in Athletes. N.p., n.d. Web. 07 Dec. 2015.

Is there a cure for Marfan Syndrome?

There is currently no cure for Marfan Syndrome, athough treatment is available marfan Syndrome is a life long disorder.


Treatment includes:


  • Surgery
  • Medications to help keep blood pressure low
  • Eyeglasses or contact lenses


The Marfan Foundation is currently research Marfan Syndrome.

For more information click on the button below:

How do you get Marfan Syndrome?

Marfan Syndrome is inherited in an autosomal dominate pattern. Marfan is found on chromosome 15 and is caused by a mutation in the FBN1 gene. Carriers of Marfan Syndrome are usually offspring of a Marfan Syndrome parent.


Picture of Chromosome 15:
Nature.com. Nature Publishing Group, n.d. Web. 07 Dec. 2015.

Weamer, Michael. "What Is Marfan Syndrome?" What Is Marfan Syndrome? N.p., 2015. Web. 02 Dec. 2015.

"Mayo Clinic." Mayo Clinic. N.p., n.d. Web. 07 Dec. 2015.

Kharisma, Guntur. "Symptoms of Marfan Syndrome." 4OurBody. N.p., 28 July 2015. Web. 04 Dec. 2015.

"Marfan Syndrome." Genetics Home Reference. N.p., 30 Nov. 2015. Web. 07 Dec. 2015.

Famous People With marfan syndrome

  1. Isaiah Austin
  2. Michael Phelps
  3. Bin Laden
  4. Abraham Lincon
  5. Julius Caeser
  6. King Tut

Did you know...

  • February is Marfan Syndrome Awareness Month
  • Pulling a tooth from a person with Marfan Syndrome can kill them