Marfan Syndrome Analysis

About 1 in 5,000 people have Marfan syndrome and about 3 out of 4 people with the syndrome will inherit it. Marfan syndrome is a genetic disorder that will affect the body’s connective tissue. Antoine Marfan first described it in 1896. The connective tissue in the body is what holds and supports organs and tissues together. The damages along with the disorder can be mild or severe. Marfan syndrome will affect everyone equally, men and women. No matter what the race, ethnicity or age. With age the disease will worsen. The greatest risk factor of getting Marfan syndrome is having a parent who has the disorder and passes it down to their children. The autosomal dominant trait is passed through families and some cases are due to mutations.

“The connective tissue is affected in the heart, eyes, bones, lungs, and spinal cord” (Dietz, 2015). Many people don’t even know they have this disease because signs will not be seen right away. Some will only see mild effects but others can have life threatening complications due to the disorder. Some features of the disorder are tall and slender build, un-proportional long arms, legs, fingers and toes. They might have a breastbone that sticks outward or dips inward, and flat feet. They could also have heart murmurs and aortic

Family history and symptoms must be there to confirm diagnosis, and other tests may be performed to determine if the disease is present or not. “One of the first tests that would be performed or recommended would be an echocardiogram. This will check to make sure the heart valves and size of the aorta are normal. Computerized tomography or magnetic resonance imaging may be used as well” (Daniel, 2015). If someone were to have the disease they will receive regular echocardiograms to monitor the heart. Eye exams may be used as well such as a slit-lamp exam and pressure test. The slit-lamp exam checks to see if the lens has been dislocated, cataracts are present, or a retina is dethatched. The eye pressure test will check for glaucoma. If tests aren’t clear genetic testing can be done to confirm a diagnosis. Surgeries may also be performed to replace part of the aorta. This would help if someone had an aorta that was stretched and not working well. If there are problems with the heart certain medications may be taken such as beta-blockers to help the heart beat slower, and blood thinners to help prevent clotting. Surgery may also help for people whose chest has sunk in or is sticking out. Glasses or contact lenses will help if the patient has eye problems. Chest tubes may have to be placed if someone with Marfans has a pneumothorax to get the air out of the