This research paper presents Marfan syndrome. The research questions addressed in this review are: how does fibrillin affect the cardiovascular system in Marfan syndrome, and what are the current modalities of treatment for the fibrillin 1 (FBN1) gene resulting in cardiovascular anomalies? Background on Marfan syndrome, genetic information, stratification of cardiovascular risk, the role of echocardiography, electrocardiographic findings in Marfan syndrome patients, arterial hemodynamic indexes, medical management of aortic dilation, surgical management of aortic dilation, valve-sparing operations, exercise and the Marfan syndrome, advanced practice nursing interventions, and a conclusion are discussed.
The Marfan syndrome is a heritable disorder of the fibros connective tissue which involves the musculoskeletal, ocular, and cardiovascular systems; this disorder appears to be due to a mutation found in the fibrillin-1 gene on chromosome 15. Marfan syndrome is found in one of every 20,000 births; it affects around one in 5000 worldwide. If neither parents of a Marfan child are affected there is only a risk of 1 in 20,000 for having another child with Marfan. In cases where no parent is affected, a spontaneous mutation in the gene that causes Marfan, found in the sperm or egg of a parent, is thought to be the cause of the condition. Onset takes place at conception. There are no gender or ethnic differences and in most cases no generations are skipped and most victims of Marfan show signs or symptoms (Child, 1997; OMIM, 2002; Pyeritz & Casner, 1999; Silverman, Burton, Gray, Bosner, Kouchoukos, Roman, Boxer, Devereaux, & Tsipouras, 1995).
Child (1997) reported that severely affected patients have high cardiovascular risk. Known associations with early death, resulting from aortic aneurysm and dissection include: a family history of early cardiac problems and dissection under aortic root diameter 5 cm; male gender; and extr...