Marfan Syndrome Pros And Cons

Marfan syndrome (MFS) is a genetic disorder which affects the connective tissue of the body. MFS is autosomal dominant, with “approximately seventy five percent of people” diagnosed with MFS having a parent that has the disorder. The other “twenty five percent” of people with MFS have developed this disease through new gene mutation (NIH. National Human Genome Research Institute). This disease is not specific to gender, race or region, and is potentially life threatening. MFS affects multiple systems within the body including the skeleton, heart, lungs, eyes and blood vessels (John Hopkins.org).
The manifestation of symptoms with marfan syndrome may show at any time in a person’s life. Typical traits of MFS are “a tall, thin build, long arms, …show more content…
Characteristic clinical findings involved with MFS include “ocular, skeletal, and cardiovascular systems.” Major features of diagnosis are defined as “lens dislocation, aortic dilation or dissention, dural ectasia, and four of the eight skeletal features” (NIH. National Human Genome Research Institute). Lens dislocation is seen in six out of ten people with MFS due to the connective tissue weakening. Symptoms of lens dislocation can vary from mild to severe nearsightedness, and blurred or fluctuating vision. It is rare for someone without MFS to dislocate a lens; therefore, lens dislocation is a key element for suspecting marfan syndrome if no other cause is present. Echocardiogram is used to look at the heart structures, and electrocardiogram (EKG) to test heart rate and rhythm. Both tests are critical for diagnosing characteristic aortic issues and monitoring the function of the heart when MFS is suspected. MRI and CAT scans are both diagnostic tools used in examining the dura, which is primarily connective tissue filled with fluid, surrounding the brain and spinal column. Dura ectasia, enlargement of the dural sac surrounding the spinal cord in the lumbar region, is “found in sixty percent of people who have marfan syndrome” (Marfan.org). Once these criteria are established, further genetic testing may be useful as some disorders are similar or are …show more content…
Early diagnosis, advances in medications, surgeries and disease management all contribute to the longer life expectancy of a person living with MFS. Careful management of strenuous activities, avoidance of contact like sports and isometric type activities contribute to longevity and quality of life. Women with MFS are capable of successful pregnancies, yet must be carefully monitored due to increased blood supply and the additional strain that pregnancy adds to their heart (Better Health.Vic.Gov). Sadly, due to the serious cardiac issues associated with marfan syndrome in infants, there is not an increase in general life span. Many infants with MFS will succumb in their first year of life to the complications of this