Biomedical Core 1110
November 19, 2011
Marfan syndrome is a variable, autosomal-dominant disorder in the connective tissue with distinct physical characteristics. The principal features affect the cardiovascular system, eyes and skeleton. This condition affects the connective protein that forms the structural support for tissues outside the cell. This disease is a result of a faulty makeup of chromosomes. Since MFS (Marfan Syndrome) is an autosomal-dominant disorder, only one copy of a faulty gene is necessary to cause manifestation of the trait (Polzin, 2005). Recent advances and further development in the study of genetics have traced this disease to certain gene mutations. The most common being the fibrillin and TGFBR1 (Transforming Growth Factor, Beta Receptor 1) genes. Without early detection and attentive surveillance of MFS, mortality and morbidity increase significantly.
In the article written by Elizabeth Gonzales, she discusses diagnostic criteria, genetic factors, and emerging theories of MFS. The article discusses the prevalence of the disease and reports that it affects about 1 in 10,000 people. It is equally common in all ethnicities, social classes, and countries (Marfan Syndrome, n.d.). This disease is typically diagnosed through genetic testing of the blood and the identification of certain physical characteristics that are commonly prevalent in MFS subjects. Although Marfan Syndrome is characterized by a triad of symptoms, most patients only have a few manifestations. Loose joints, long thin extremities, and aortic aneurysms are the primary symptoms of MFS. These clinical manifestations may be present at birth or develop later in life (Marfan Syndrome, n.d.). Her explanation of the management of this disease was very specific. She explains that MFS management requires holistic care including paying particular attention to cardiovascular, orthopedic, and ocular issues. Aside...
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