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Management of Marfan syndrome and related disorders

Michael J Wright, MBChB, MSc
Heidi M Connolly, MD, FASE
Section Editor
Harry C Dietz, MD
Deputy Editor
Susan B Yeon, MD, JD, FACC


The Marfan syndrome (MFS, MIM #154700) is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals. There is a wide range of clinical severity associated with MFS. Although many clinicians view the disorder in terms of classic ocular, cardiovascular, and musculoskeletal abnormalities, these patients also demonstrate significant involvement of the lung, skin, and central nervous system.

The management and prognosis of MFS and related disorders will be reviewed here. The genetics, pathogenesis, clinical manifestations, and diagnosis of MFS and related disorders and issues related to MFS in pregnancy are discussed separately. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Pregnancy and Marfan syndrome".)


The prognosis of patients with MFS has improved with the use of beta blockers, restriction of vigorous physical exercise, routine and noninvasive monitoring of aortic size, and elective surgical repair of the aorta. The physiologic changes that occur during pregnancy are associated with an increased risk of aortic dilation and dissection and therefore require more intensive monitoring. (See "Pregnancy and Marfan syndrome".)

The 2010 American College of Cardiology/American Heart Association/American Association for Thoracic Surgery (ACC/AHA/AATS) guidelines for thoracic aortic disease include recommendations for MFS, Loeys-Dietz Syndrome and other genetic syndromes affecting the aorta [1]. These guidelines are similar to the recommendations for MFS published in 2001 by a Task Force of the European Society of Cardiology [2].


Monitoring of the aortic diameter is recommended to identify patients at high risk for aortic dissection.


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Literature review current through: Sep 2016. | This topic last updated: Sep 28, 2016.
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