Marfan Syndrome Pros And Cons

According to Merriam-Webster Marfan is defined as “a disorder of connective tissue that is inherited as a simple dominant trait, is caused by a defect in the gene controlling the production of fibrillin, and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects.” (Merriam-Webster, 2015) Genetic disorders have a wide range of symptoms and varying degrees of complexity, Marfan syndrome is no exception. In fact diagnosis of MFS can be difficult due to the similarities it has to other disorders, the wide variances in which people are affected and because the physical distinguishers might not appear until adolescence. The criteria for diagnosis was changed in 2010 with advancement of genetic …show more content…
Some people show minimal physical signs of Marfan (like extremely long extremities) yet suffer severe cardiovascular symptoms.This is incredibly dangerous since Pt education and treatment would only be given to those with diagnosis. Early detection and treatment are imperative in order to survive into mid-life.

Marvin is a 30 year old man who was born with mild scoliosis. ““Brice (2007) states that 50% of those with Marfan syndrome suffer from scoliosis” (Bentley,2013). In 1998 he was diagnosed with Marfan syndrome (MFS) due to a startling growth spurt which prompted the primary care physician to perform genetic testing. His diagnosis of MFS was confirmed with the findings of a mutation of the 15th chromosome. He had a dislocated optic lense in his right eye that was surgically repaired in 2000. After a long period of breathing issues during his adolescent years, Marvin was diagnosed with Restrictive Lung disease in 2002. He often suffers from shortness of breath and chest pain because of this. He has been hospitalized multiple times during the last 10 years for cardiac complications. Testing has revealed the aortic valve has dilated due to the lack of tissue elasticity caused by