Topic > Marfan syndrome - 2087

Marfan syndrome is primarily an autosomal dominant disorder affecting 1 in 5,000 people worldwide. Marfan syndrome is a connective tissue disease that causes a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early diagnosis, but Marfan syndrome still remains underreported due largely to the similarities of common characteristics among the general public. Added to this are the 25% of individuals with a new genetic mutation on fibrillin 1. It is critical that nurses have a greater understanding of Marfan syndrome to facilitate a genetic referral for early and accurate diagnosis of Marfan syndrome. This should include the mechanism by which this genetic mutation manifests in the body, the presenting symptoms, risk factors, treatment, and educational needs of the patient. Marfan syndrome Marfan syndrome (MFS) is a fairly common hereditary connective tissue disease. The syndrome can be found in 1 in 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than 100 years, in fact it was hypothesized that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is no current cure yet, but early recognition and intervention can play a key role in preventing sudden cardiac complications (Midla, 2008). For diagnosed Marfan patients, life expectancy is close to normal, but tends to be underdiagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS as recognition is essential for diagnosis. Since MFS is primarily a hereditary disease, it is of equal importance that the nurse understands that referral to a geneticist is an imperative n… halfway through the… mission, and anxiety may occur (Giarelli et al. al ., 2010). Athletes wishing to play sports should undergo a medical and cardiac evaluation before being allowed to play. Women considering becoming pregnant should undergo a cardiovascular risk assessment prior to conception and genetic counseling should be recommended to establish the patient's risk of transmitting the syndrome (Lippincott Williams & Wilkins, 2005). Although significant advances have provided MFS patients with an increased life expectancy, the fact remains that early diagnosis is critical to improving MFS patient care. As MFS patients live longer and symptoms become noticeable. Nurses must recognize that these patients often present in a routine clinical setting, where their clinical experience and genetic knowledge may open the door to early diagnosis and treatment..