Marfan Syndrome Case Study

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Juliette Mason is a High school student who has Marfans Syndrome. She plays basketball on her high school team and her parents were worried about her due to the fact that her brother had Marfans and died from an aortic aneurysm, he also played basketball. They came to me to find out how basketball will be impacted by the disorder and how she should go forward when she eventually has children.
Marfans Syndrome is a genetic disorder that affects the bodies connective tissue in the body. Connective Tissue hold the body's cells, organs and tissue together. The protein that is involved with marfans syndrome is Fibrillin-1(FBN1) A mutation or change in the gene that controls how the body makes FBN1causes Marfans. Due to the fact that connective tissue is all over the body, Peoples symptoms and problems vary. The symptoms may include Heart and blood vessel complications, eye complications, Nervous system complications, and Lung complications. A common threat of this disorder is the damage of the aorta. Marfans can rupture the inner layers of the aorta which causes dissection that leads to bleeding in the wall of the vessel.
Mafans syndrome
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Juliette wanted to know how to go forward with pregnacy is she does have a baby in the future. Since she does have Marfans, her baby will have a 50% Chance of also having Marfans. Pregnant women with Marfans are considered high risk cases. If the aorta is normal sized then the risks for dissection are lower but not absent. Those with even the slightest enlargement are at higher risk and the stress of pregnancy may cause more rapid dilation. There will have to be follow ups with blood pressure checks and monthly echocardiograms that are required during her pregnancy. Bed rest may be required but her doctor will prescribe the methods for
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