Marfan syndrome (MFS) is a fairly common inherited 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 100 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 play 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 imperative n...
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...ssion, and anxiety can occur (Giarelli et al., 2010). Athletes who wish to play sports should have a clinical and cardiac evaluation before allowed to play. Women who are considering getting pregnant should be given have a cardiovascular risk assessment before conceiving and genetic counseling should be recommended to establish the patient’s 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 longer 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 knowledge may open the door to early diagnosis and treatment.
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