Management of Marfan syndrome and related disorders
- Michael J Wright, MBChB, MSc
Michael J Wright, MBChB, MSc
- Consultant in Clinical Genetics
- Northern Genetics Service
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Heidi M Connolly, MD, FASE
Heidi M Connolly, MD, FASE
- Section Editor — Congenital Heart Disease
- Professor of Medicine
- Mayo Medical School
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 . These guidelines are similar to the recommendations for MFS published in 2001 by a Task Force of the European Society of Cardiology .
Monitoring of the aortic diameter is recommended to identify patients at high risk for aortic dissection.
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- AORTIC MONITORING
- How to measure
- Monitoring MFS
- Monitoring Loeys-Dietz and related syndromes
- DRUG THERAPY
- Beta blocker
- - Beta blocker recommendations
- - Beta blocker data
- - Therapy targeting the renin-angiotensin system
- Other drug therapy
- Avoid calcium channel blocker
- RESTRICTION OF STRENUOUS ACTIVITY
- AORTIC ROOT REPLACEMENT
- Elective replacement
- - Rationale
- - Indications in MFS
- - Indications in Loeys-Dietz syndrome
- Symptomatic aortic disease
- Surgical technique
- - Composite valve graft
- - Valve-sparing aortic root replacement
- - Surgical guidelines
- - Investigational approaches
- Postoperative issues
- - Anticoagulation
- - Antibiotic prophylaxis
- - Medical therapy
- - Coronary ostial aneurysms
- - Follow-up imaging
- TREATMENT FOR OTHER COMPLICATIONS OF MFS
- MANAGEMENT OF RELATED CONDITIONS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS