When assigned to study a disease, it was easy to choose because we have a family that suffers from heart problems. Marfan syndrome has hit home since it was diagnosed in my father, as well as my first cousin. The causes of this disease are not specific, except that it is a genetic disease. However, the symptoms are quite easy to detect when the doctor is informed of the family history. Because the causes are unclear, it is important for families to be aware of these symptoms. There is no cure for this disease (Ho 1978), but when the symptoms are known to a person carrying the disease, it is possible to develop a lifestyle that can allow the carrier to lead a fairly normal life. These symptoms affect the heart and blood vessels, lungs, bones and joints, nervous system, teeth and eyes. Knowing these symptoms makes a difference for those diagnosed with Marfan syndrome and/or for people who believe they are genetic carriers of this disease. The first symptom is the heart and blood vessels. The heart and blood vessels have been shown to affect approximately 30%-60% of people diagnosed with Marfan syndrome; heart and vascular problems are most common in the syndrome (Stout 1077). The aorta, heart valves, and blood vessels surrounding the heart may be affected. It is important that early and correct diagnoses are identified before these areas can lead to life-threatening emergencies. The aorta may become enlarged (aortic dilatation), and the walls of the aorta may swell, causing an aortic aneurysm (Dean 724). These are very serious problems as patients are at risk of tearing or rupturing the aorta. Doctors use a “Z-score” to describe the size of the aorta; however, the size of the aorta changes from childhood to adulthood (Dean 7...... middle of paper ...... Web. January 16, 2014. Dean, John C.S. “Marfan Syndrome: Diagnosis and clinical management". European Journal of Human Genetics 2007: 724-733. Premier Academic Research. 16 January 2014. Ho, Nicola CY, Joseph R. Tran and Arsun Bektas "Marfan Syndrome 2005: 1978-1981". Premier Web. 16 January 2014. Judge, Daniel P. and Harry C. Dietz. “Marfan Syndrome 2005: 1965-1976, ed. Harvard Medical School: Family Health Guide New York: Simon & Schuster, 1999. Print.Kunz, Jeffrey RM, ed. The American Medical Association: Family Medical Guide New York: Random House Inc., 1982. Stout, Martin. "Marfan Syndrome: Implications for Athletes and Their Echocardiographic Evaluation 2009: Academic Search Premier January 16. 2014.
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