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Marfan Sydrome

Marfans syndrome is a disorder of connective tissue. Marfans syndrome effects the skeleton, lungs, eyes, heart, and blood vessels. It can also effect men and women of any race or ethnic group. Marfans can have fatal consequences and outcomes. It effects one out of every thousand. Marfans syndrome damages the cardiovascular, musculoskeletal, and ocular systems of a patient. Without proper diagnosis and treatment, a person's life with Marfans syndrome could become endangered. Dr. Antoice Marfan discovered Marfans syndrome in 1896. Through the years the technology to increase the life expectancy of its patients has grown. It is the most common inherited disorder. Marfan syndrome is an autosomal dominant disorder that affects the connective tissue. The connective tissue is the most abundant tissue in the body. It supports and protects many other tissues in the body. It is a vital component of all organs and gives strength to blood vessels. Marfan syndrome is linked to FBN1 gene on chromosome 15.6 Chromosome 15 contains a gene that codes for type I collagen receptors, cardiac and muscle actin.4 FBN1 encodes a protein. The protein is called fibrillin. This is essential for the formation of elastic fibers, which are located in the connective tissues.6 A decrease production of fibrillin causes the gene to mutate.4 Thirty percent of cases arise from the new mutation of the gene.1 Since fibirllin is present in so many structures of the body, clinical research of the disease varies with each structure.4 The degeneration of the elastin leads to aortic dilation or enlargement.1 Marfan syndrome's symptoms are mostly related with the heart. As a child, a marfan child's heart appears to grow normally. As time goes by the aortic root dilation is common and there is a rapid increase in aortic size. This causes an increase in heart complications. Marfan's patients have to undergo multiple and extensive surgeries. Doctors have to treat many heart problems with marfan patients. One is...