John D. Chovan, James R. Cacchillo
Genetic Disorders, Cardiovascular Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Medical Pathology | Medicine and Health Sciences | Nursing
Genetic disorders are widely misunderstood in our society and can lead to early mortality. Marfan syndrome (MFS) is a genetic disorder that affects connective tissue (Harris, Croce, & Tian, 2014). Antoine Marfan, a French pediatrician, first described this disease in 1896 (Elshershari & Harris, 2014). MFS can manifest in several different organ systems. The cardiovascular complications of aortic dilation and dissection often account for the morbidity associated with this disease (Harris et al., 2014). Understanding the inheritance, pathophysiology, and treatment of MFS is important for the advanced practice nurse (APN). Prevalence of the disease is approximately two per 10,000 individuals, but it is thought that MFS is under diagnosed and authorities suspect MFS may affect one in 3,000 (Pitcher, Emberson, Lacro, Sleeper, & Stylianou, 2015). MFS is most notable for affecting Abraham Lincoln and causing the death of Flo Hyman, a member of the 1986 US Olympian team (Davis, Dyar, Vargas, & Grossfeld, 2015). By obtaining a detailed health history of all athletes and recognizing the rare phenotype expressed by children withMFS, the APN can prevent the mortality associated with MFS, especially in the athletic population.
Hastings, Chelsey, "Marfan Syndrome in Athletes" (2015). Master of Science in Nursing (MSN) Student Scholarship. Paper 71.