Marfan Syndrome Essay -- Health, Diseases

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 sight worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with premature detection, but Marfan syndrome still remains underestimated due in large area to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is domineering that moderates have a great understanding of Marfan syndrome in order to relieve a heritable referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the fortune factors, treatment, and education needs of the patient. Marfan syndrome Marfan syndrome (MFS) is a fairly common ancestral connective-tissue disorder. The syndrome can be found in 1 in every 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than snow years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can move a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an compulsory n... ...ssion, and misgiving can occur (Giarelli et al., 2010). Athletes who wish to play sports should have a clinical and cardiac evaluation in the beginning allowed to play. Women who are considering getting pregna nt should be given have a cardiovascular risk assessment before conceiving and genetic counseling should be recommended to establish the patients risk of passing on the syndrome (Lippincott Williams & Wilkins, 2005). While significant advances have provided MFS patients with a greater life expectancy, the fact still remains that early detection is imperative in improving of care for the MFS patient . As MFS patients live overnight and symptoms become evident. Nurses need to recognize that these patients will often present in a routine clinical setting, where their clinical expertise and genetic fellowship may open the door to early diagnosis and treatment.