Symptoms and Treatments of Marfan Syndrome

When assigned to study a disease, it was easy to choose because of having a family who is suffering with heart problems. Marfan syndrome hit home since my father was diagnosed, as well as, my first cousin. The causes of this disease are not specific with the exception of it being a genetic disease. However, the symptoms are quite easy to detect when the physician is made aware of family history. Since the causes are unclear, it is important that families know about these symptoms. This disease has no cure (Ho 1978), but when the symptoms are known to a person carrying the disease, a lifestyle can be developed which can allow the carrier to lead a fairly normal life. These symptoms affect the body’s heart and blood vessels, lungs, bones and joints, nervous system, teeth, and eyes. Knowing these symptoms makes a difference to those who have been diagnosed with Marfan syndrome and/or people who believe they are a genetic carrier of this disease.

The first symptom is the heart and blood vessels. The heart and blood vessels are shown to affect approximately 30% to 60% of people diagnosed with Marfan syndrome; heart and blood vessel problems are the most common in the syndrome (Stout 1077). The aorta, heart valves, and blood vessels surrounding the heart can be affected. It is important that early and correct diagnoses be identified before these areas can lead to life threatening emergencies. The aorta can become enlarged (aortic dilation) and the walls of the aorta may swell causing an aortic aneurysm (Dean 724). These are very serious problems since patients are at risk for tearing or rupturing the aorta. Doctors use a “Z-score” to describe the size of the aorta; however, the aorta changes in size from childhood to adulthood (Dean 7...

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