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. 1996. ID: 8723076; Judge and Dietz. Lancet. 2005. PubMed ID: 16325700). Of particular concern is the risk of developing a life threatening aortic aneurysm or dissection (De Paepe et al. 1996. ID: 8723076).
To prevent complications, as well as improve the quality of life for patients diagnosed with MFS, careful monitoring and pharmacologic and/or surgical intervention when indicated is critical (Dietz, H., GeneReviews. 2001; ncbi.hlm.nih.gov/books/NBK1335).
Monitoring and Precautions
Cardiac abnormalities are common in patients with MFS, and thus, annual or more frequent echocardiogram is recommended to prevent fatal complications (Dietz, H., GeneReviews. 2001; ncbi.hlm.nih.gov/books/NBK1335). Avoiding contacts sports and activities that cause exhaustion is crucial for MFS patients because of the underlying weakness of the blood vessels and problems with the aorta (National Marfan Foundation, 2013; marfan.org). Additionally, use of SBE (subacute bacterial endocarditis) antibiotic prophylaxis during 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). Due to the fact that symptoms of MFS and other genetic disorders often overlap, genetic testing is valuable to confirm the diagnosis and facilitate instituting the correct precautionary measures and treatments (National Marfan Foundation, 2013; marfan.org).
Prescription medications such as beta blockers or angiotensin receptor blockers that have the potential to reduce hemodynamic stress on the aortic wall and slow aortic root growth can improve overall survival of those diagnosed (Milewicz et al. 2005. PubMed ID: 15781745, GeneReviews). They also lower blood pressure, decrease distensibility at the level of the ascending aorta, and reduce the rate of aortic complications (Groenink et al. 1998. PubMed ID: 9678292). Such treatment has been shown to be most beneficial when a diagnosis and appropriate treatment begins early (e.g. in adolescence) (Milewicz et al. 2005. PubMed ID: 15781745).
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.
Last Updated: 4/23/2018