Running head: MARFAN’S SYNDROME 1
Marfan’s Syndrome: The Unknown Killer
Michael Schulte
Bayside High School

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Abstract
Marfan’s syndrome is a disease that most people do not know about its existence. Marfan’s affects 1 in 5,000 people (Health Medical News, 2013). The syndrome affects the connective tissue (New York Times, 2013), which limits many of the activities people can do. Most people who have it are tall, lean, and have long appendages (Lerner, E. L., & Lerner, B. W., 2008).
Most people die of a ruptured aorta which can be prevented through surgery as with most disabilities associated with Marfan’s syndrome. It also has a more resent medical history (Lerner,
E. L., & Lerner, B. W., 2008), but some well-known figures suffered from it.
Keywords:
Marfan’s, syndrome, aorta, connective tissue

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Marfan’s Syndrome: The Unknown Killer
10,000 people in America alone die from ruptured aortas, the leading cause of death in
Marfan’s Syndrome (Learning To Defuse The Aorta., 2013). Marfan’s syndrome has a recent history, and there is a high chance of having the disease (The lifeline with Marfan's: its diagnosis, 2001). Marfan’s syndrome contains many symptoms that may appear as normal, but there are many physical restrictions with the disease. Marfan’s syndrome has many tests and treatments. Marfan’s syndrome is a genetic epidemic.
Discovery History
Marfan’s syndrome has a more recent discovery history, but it goes farther back than people think. Antoine Marfan is the credited founder of Marfan’s syndrome (Lerner, E. L., &
Lerner, B. W., 2008). He was a pediatrician from France. According to Lerner, E. L., & Lerner,
B. W. (2008), he diagnosed a five year old girl who he described as “spider like” because her fingers were long. However, there is a report of someone with those symptoms in Cincinnati,
Ohio. According to Lerner, E. L., & Lerner, B. W. (2008), this was 20 years earlier. He was an eye doctor who found “a tremor in the irises of a brother and sister with long limbs and exceptionally flexible joints,” (Lerner, E. L., & Lerner, B. W., 2008).
Genetics
Marfan’s syndrome is a disease that affects a gene, and there is a good chance of having it. Marfan’s affects the FBN1 gene in people (Health Medical News., 2013). The FBN1 gene codes for the body’s production of fibrillin. Fibrillin is responsible for the body’s production of connective tissue (Marfan Foundation., n.d.). Most of the symptoms relating to Marfan’s are from the problem with the connective tissue.

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One in 5,000 to one in 10,000 people have Marfan’s syndrome (The lifeline with
Marfan's: its diagnosis, 2001). There is also a 50% chance of inheriting the disease if a parent has it. However, not all people inherit the disease. About 25% of people with Marfan’s syndrome develop it later in life (The lifeline with Marfan's: its diagnosis., 2001).
Symptoms
Marfan’s is full of many symptoms, but some seem more normal. Marfan’s most distinct features relate to appearance. A noticeable feature is being very tall and lean (The lifeline with
Marfan's: its diagnosis., 2001). People suffering from this syndrome also tend to have extremely long fingers and toes. A skeletal deformation, such as scoliosis, and a chest deformation are also common signs (Lerner, E. L., & Lerner, B. W., 2008).
Not all of Marfan’s symptoms are appearance related. The most deadly ones occur on the inside of the body. The most deadly of the symptoms is aortic enlargement (Learning To Defuse
The Aorta., 2013). The aorta is “the major blood vessel leaving the heart and carrying blood to numerous other smaller vessels that branch off and deliver blood to the entire body” (Lerner, E.
L., & Lerner, B. W., 2008). This causes the aorta to burst (Learning To Defuse The Aorta.,
2013). Approximately 10,000 Americans (with or without Marfan’s) die each year from their aorta bursting. According to the Health Medical News (2008) these symptoms may not become present till the person ages. Written on the Marfan Foundation (n.d.), “Marfan syndrome does not affect intelligence.”
Restrictions
Marfan’s Syndrome contains many restrictions in order to live a normal life span.
Marfan’s victims must refrain from strain inducing sports (Living With Marfan Syndrome.,
2010). This would include football, soccer, hockey, and baseball. People should partake in less

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Syndrome., 2010). They must also refrain from intense physical activity (Living With Marfan
Syndrome., 2010). This would include heavy lifting or moving large objects. From Living With
Marfan Syndrome (2010), it puts extra strain on the heart which would increase the chance of the person’s aorta to burst.
Testing & Treatment
Over the years, many new ways of testing and treatment have become available for
Marfan’s. Marfan’s has many different tests to determine if a person has the disorder (Health
Medical News., 2013). People should get the following tests first (Health Medical News., 2013): physical, cardiac, and ophthalmic tests. If a person doesn’t qualify or has a strong probability of
Marfan’s syndrome, then the person may get FBN1 testing. FBN1 testing also occurs at certain intervals in a person’s life (Health Medical News., 2013).
Marfan’s syndrome also has some treatments available. Most people go through surgery to correct the deformities, and they go through heart surgery (Learning To Defuse The Aorta.,
2013). A new drug in testing from Dr. Hal Dietz helps keep the aorta from expanding. This should save many lives. It has been tested in mice (Learning To Defuse The Aorta., 2013), and their life span has changed from three months to two years. It is supposed to start human trials in
2014. People with Marfan’s should also have the following doctors (Living With Marfan
Syndrome., 2010): a cardiologist, an orthopedist, and an ophthalmologist.

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Marfan’s Syndrome is here to stay, and more people are being diagnosed with the syndrome every day. The future does look bright as surgery and testing advance, and new medicines available will allow people to live a more normal life. Life will become more difficult as more people get Marfan’s. People will be unable to do certain tasks, so new inventions will be made to help those people. Even though Marfan’s Syndrome will not disappear, it will become easier to cope with it.

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References
Health Medical News. (2013, October 1). Multidisciplinary approach to Marfan syndrome best:
AAP. Gale Science in Context. Retrieved January 9, 2014, from http://ic.galegroup.com/ic/scic/NewsDetailsPage/NewsDetailsWindow?failOverType=&q uery=&prodId=SCIC&win
Learning To Defuse The Aorta. (2013, December 3). New York Times. Gale Science in Context.
Retrieved January 12, 2014, from http://ic.galegroup.com/ic/scic/NewsDetailsPage/NewsDetailsWindow?failOverType=&q uery=&prodId=SCIC&windo
Lerner, E. L., & Lerner, B. W. (2008). Marfan syndrome. Gale Science in Contex. Retrieved
January 9, 2014, from http://ic.galegroup.com/ic/scic/ReferenceDetailsPage/ReferenceDetailsWindow?failOver
Type=&query=&prodId=SCIC&windowstate=normal&contentModules=&mode=view& displayGroupName=Reference&limiter=&u=va_s_128_0530&currPage=&disableHighli ghting=false&displayGroups=&sortBy=&source=&search_within_results=&p=SCIC&ac tion=e&catId=&activityType=&scanId=&documentId=GALE%7CCV2644031366
Living With Marfan Syndrome. (2010, October 1). - NHLBI, NIH. Retrieved January 9, 2014, from http://www.nhlbi.nih.gov/health/health-topics/topics/mar/livingwith.html

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Marfan Foundation. (n.d.). What is Marfan Syndrome?. Know the signs. Fight for victory..
Retrieved January 8, 2014, from http://www.marfan.org/about/marfan
The lifeline with Marfan's: its diagnosis (2001, October 16). New York Times. Gale Science in
Context. Retrieved January 12, 2014, from http://ic.galegroup.com/ic/scic/NewsDetailsPage/NewsDetailsWindow?failOverType=&q uery=&prodId=SCIC&wind