Marfan Syndrome Essays (1425 words) - Rare Diseases,

Marfan Syndrome 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 the treatment of ascending aortic aneurysm. This is an enlarging sac that is formed by local enlargement of the wall of the aortic artery. Another surgery used in treating this disorder is the replacing of a totally new aortic root with a composite valve. Marfan patient's heart undergoes valve prolapse and regurgitation. Regurgitation is the backward flow of the blood. This can be due to an imperfect closure of the heart valve. Another heart problem with Marfan patients is the dilation of the left ventricle. This can result in heart failure.1 [Beta]-blocker therapy have shown to slow the aortic dilation and prevent aortic dissection.5 The use of medication has lowered the arterial pressure, regular aortic imaging, and elective aortic repair of the heart. It also lowers blood pressure. The medication has prolonged the life expectancy of a Marfan patient by twenty-five years.3 A Marfan patient should follow the ?Three Goals of Medical Management.? The first goal is to ?prevent serious aortic complications by minimizing aortic wall stress.? The patient needs to avoid any stress. They should also avoid extensive exercise that could put more stress on their heart. Pregnancy for a Marfan patient is considered a ?high risk.? Pregnancy puts a demand on the cardiovascular system. Pregnant woman with Marfan syndrome should have an echocardiography every six weeks until birth of the baby. The second goal is to ?prevent bacterial endocarditis.? Patients should be provided with antibodies which helps control high-risk bacterial endocarditis. The third goal is to ?detect card iovascular manifestations early.? The sooner that it is detected the better chance of surviving and complications.5 Cardiovascular complications is the most leading cause of death among Marfan patients. Among cardiovascular complications, it is the aortic dissection or rupture that causes patients to die3. The reason for a decrease in life is caused by the progressive dilation of the aortic root and ascending aorta. This causes weakness of the blood vessels. The weakness leads to the aortic valve regurgitation and aortic dissection. Eighty percent of adults have aortic enlargements. Symptoms associated with aortic dissection are pain in the front or back of chest, or the abdomen. The pain is a severe midline pain. Small dissections of the aorta may be painless or unnoticeable.4 Despite the incredible improvements in the procedure to prolong life for