Marfan syndrome (FBN1)
Marfan syndrome (MFS) (OMIM 154700) is a connective tissue disorder that affects multiple organ systems with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS diagnosis is often based on the presence of a family history (75% of individuals have an affected parent), and the observation of characteristic clinical findings in multiple organ systems (De Paepe et al. Am J Med Genet. 1996; 62: 417-426; Judge and Dietz. Lancet. 2005; 366: 1965-1976). Of particular concern is the risk of developing a life threatening aortic aneurysm or dissection (De Paepe et al. Am J Med Genet. 1996; 62: 417-426).
To prevent complications as well as improve the quality of life for patients diagnosed with Marfan's, taking the proper precautions as well as supplementing with Beta-Blockers is critical (Dietz, H., GeneReviews. 2001; ncbi.hlm.nih.gov/books/NBK1335).
Screening and Precautions
Cardiac and ophthalmologic abnormalities are common in patients with Marfan's, and annual echocardiogram and ophthalmologic exams are recommended to prevent fatal complications (Dietz, H., GeneReviews. 2001; ncbi.hlm.nih.gov/books/NBK1335). Because of the underlying weakness of the blood vessels and problems with the aorta, avoiding contacts sports and activities that cause exhaustion is crucial for Marfan's patients (National Marfan Foundation, 2013; marfan.org). Using prescription antibiotic SBE (subacute bacterial endocarditis prophylaxis) during surgery or dental work is important in order to prevent bacterial infection of cardiac valves or intracardiac structures (Woerlee, G., Developments in Critical Care Medicine and Anesthesiology. 1988; 18(2): 84-86). Because symptoms of Marfans and other genetic disorders often overlap, genetic testing is valuable to give proper diagnosis and help to enact the correct preventative measures and treatments (National Marfan Foundation, 2013; marfan.org).
Prescription medications that reduce hemodynamic stress on the aortic wall (Beta Blockers) slow aortic root growth, cause fewer cardiovascular endpoints, and overall improve the survival rate of those diagnosed (Milewicz et al., Circulation. 2005; 111: e150-e157). They also lower blood pressure, decrease distensibility at the level of the ascending aorta, and reduce the rate of aortic complications (Groenink et al., The American Journal of Cardiology. 1998; 82(2): 203-208). This treatment was also observed in young children and was shown have the most benefit when diagnosis was made early and treatment could be started (Milewicz et al., Circulation. 2005; 111: e150-e157).
For more information on FBN1 testing, please see our full Test Description.
This article is a summary of information that has been reported in the biomedical research literature. It is not medical advice for patients. All disease treatments should be under the direction of a qualified healthcare provider.