Marfan Syndrome

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people 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 early detection, but Marfan syndrome still remains underestimated due in large part 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 imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic 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 risk factors, treatment, and education needs of the patient.

Marfan syndrome

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.