Marfan Syndrome

By: Ryan W.

What is this disease?

Marfan Syndrome affects the body's connective tissue. The common body parts that Marfan affects are the heart, eyes, blood vessels, and the skeleton. Some can be life threatening (like the heart).
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"Marfan Foundation Urges." PRWeb. N.p., 10 June 2013. Web. 04 Dec. 2015.

About the Disease

Genetics Information

The Gene

Marfan Syndrome has it's own gene. The official name of that gene is fibrillin 1(FBN1 15q21) which causes Marfan syndrome. Fibrillin makes a large protein called fibrillin-1.


The chromosome

The fibrillin is located on the long arm of chromosome 15. The exact position of fibrillin is 21.1.

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"FBN1 Gene." Genetics Home Reference. National Institutes of Health, 30 Nov. 2015. Web. 02 Dec 2015.

Symptoms of Marfan Syndrome

Some symptoms can be life threatening. Symptoms of the syndrome can be different for others. Symptoms include:


  • Tall and slender body
  • Disproportionately long arms, legs, fingers, and toes.
  • A breastbone that protrudes outward or dips inward.
  • A high, arched palate and crowded teeth.
  • Heart Murmurs
  • Extreme nearsightedness
  • An abnormally curved spine.
  • flat feet.

Complications

Marfan affects most of the body so it causes a bit of complications.


Some of them include


  • Aortic aneurysm
  • Aortic dissection
  • Valve malformation
  • Lens dislocation
  • Retinal problems


Marfan syndrome increase the risk of abnormal curves in the spine. It can interfere with the development of peoples rib cage. The aortic can bulge out in people with Marfan syndrome. This is caused by the blood pressure leaving your heart. It is weak there is it bulges out easier. People at a young age with Marfan syndrome tend to have eye problem.

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

Inherentice

Marfan syndrome is inherited in an autosomal dominate pattern. That means that it takes one mutation gene to have the disease. Although it is possible for a mutation to happen in the gene. So it is possible to get it in a family with no history of the disease. If only one parent has the gene then it is a 50% chance of getting it. If both parents have the disease then it is a 100% chance of getting the disease.


Carriers


Marfan syndrome has no carriers as it is dominate. You can only have it or not like said above.

Treatment

There is no cure for Marfan syndrome, but there is treatment focusing on complications.


Medications

Doctors often give blood pressure lowering drugs to help prevent the Aorta from enlarging.


Therapy

Glasses or contact lenses can help with dislocated lens in your eyes. You can help the spine in a child's back by a back brace worn until the child's growth finished


Surgery

You can use surgery to correct the spine and have it straight. Surgery can help with the dislocated eye lens if you don't want glasses. surgery can be used for many complications to help!

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Boyd, Kierstan. "Marfan Syndrome Treatment." Eye M.D. EyeSmart, 1 Mar. 2015. Web. 08 Dec. 2015.

Resource being worked on Marfan syndrome

Many scientist are working on studding the disease and risk factor. Others are working on better ways to treat the conditions of Marfan syndrome. Many are looking from different perspectives to find out more.

More facts about Marfan

  1. 25% of the cases are of genetic mutations in a family without history of the disease.
  2. Most people with the disease are nearsighted.
  3. Most people have stretch marks on their skin.
  4. People can have painful, numb, or weak legs.

For more information on Marfan go here:

Work Cited

Mayo Clinic Staff. "Marfan Syndrome." Mayo Clinic. N.p., 1 Feb. 2013. Web. 2 Dec. 2015.


"What Is Marfan Syndrome?" What Is Marfan Syndrome? N.p., n.d. Web. 02 Dec. 2015.


"Marfan Syndrome." Genetics 4 Medics . N.p., n.d. Web. 02 Dec. 2015.


"FBN1 Gene." Genetics Home Reference. National Institutes of Health, 30 Nov. 2015. Web. 02 Dec. 2015.


"Marfan Syndrome." Questions and Answers about. National Institutes of Health, Oct. 2015. Web. 07 Dec. 2015.