Pregnancy and Marfan syndrome
- 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
Heidi M Connolly, MD
- Section Editor — Congenital Heart Disease
- Professor of Medicine
- Mayo Medical School
- Section Editors
- Charles J Lockwood, MD, MHCM
Charles J Lockwood, MD, MHCM
- Section Editor — Obstetrics
- Senior Vice President, USF Health
- Dean, Morsani College of Medicine
- Professor, Obstetrics and Gynecology
- University of South Florida
- Harry C Dietz, MD
Harry C Dietz, MD
- Section Editor — Valvular and Aortic Disease
- Victor A. McKusick Professor of Medicine and Genetics
- Johns Hopkins University School of Medicine
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 lungs, skin, and central nervous system.
Pregnancy and the postpartum period is a high-risk time for aortic dissection and rupture in women with MFS. The increased risk may be due to increased arterial wall stress associated with the hypervolemic and hyperdynamic circulatory state and/or hormonal effects on aortic wall composition [1,2]. Aortic root dilatation can also lead to worsening aortic regurgitation.
The management of pregnancy in women with MFS and related disorders will be reviewed here. The genetics, pathogenesis, clinical manifestations, diagnosis, and management of MFS and related disorders are discussed separately. The management of pregnancy in women with bicuspid aortic valve is also discussed separately. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Management of Marfan syndrome and related disorders" and "Pregnancy in women with a bicuspid aortic valve".)
Women with Marfan syndrome who are considering pregnancy should receive counseling regarding the risk of aortic dissection/rupture and aortic regurgitation, which may occur during pregnancy or in the peripartum period. These patients require specialized management prior to, during, and following pregnancy, including delivery and the post-partum period . Counseling regarding the risk of transmission is also indicated . Discussion should include potential alternatives to pregnancy (childlessness, adoption, and use of a gestational carrier or surrogate pregnancy). The 50 percent chance of transmission from an affected parent to her child, phenotypic variability, and the availability of prenatal diagnostic testing should be discussed, as detailed separately. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders".)
ASSESSMENT OF RISK OF AORTIC DISSECTION/RUPTURE
Any woman with Marfan syndrome (MFS) who is contemplating pregnancy should have a screening transthoracic echocardiogram for assessment of aortic root, ascending aorta dimensions, and assessment of possible associated valve or myocardial disease. In addition, imaging of the entire aorta by computed tomography (CT) or magnetic resonance (MR) imaging, as well as consultation with a cardiologist, maternal-fetal medicine specialist, and geneticist is recommended in order to provide comprehensive data that will inform the risks of pregnancy to her and her offspring . (See "Echocardiographic evaluation of the thoracic and proximal abdominal aorta", section on 'Two-dimensional echocardiography'.)
- Meijboom LJ, Nollen GJ, Merchant N, et al. Frequency of coronary ostial aneurysms after aortic root surgery in patients with the Marfan syndrome. Am J Cardiol 2002; 89:1135.
- Elkayam U, Ostrzega E, Shotan A, Mehra A. Cardiovascular problems in pregnant women with the Marfan syndrome. Ann Intern Med 1995; 123:117.
- European Society of Gynecology (ESG), Association for European Paediatric Cardiology (AEPC), German Society for Gender Medicine (DGesGM), et al. ESC Guidelines on the management of cardiovascular diseases during pregnancy: the Task Force on the Management of Cardiovascular Diseases during Pregnancy of the European Society of Cardiology (ESC). Eur Heart J 2011; 32:3147.
- Rossiter JP, Repke JT, Morales AJ, et al. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol 1995; 173:1599.
- Lipscomb KJ, Smith JC, Clarke B, et al. Outcome of pregnancy in women with Marfan's syndrome. Br J Obstet Gynaecol 1997; 104:201.
- Donnelly RT, Pinto NM, Kocolas I, Yetman AT. The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome. J Am Coll Cardiol 2012; 60:224.
- Meijboom LJ, Vos FE, Timmermans J, et al. Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J 2005; 26:914.
- Therrien J, Gatzoulis M, Graham T, et al. Canadian Cardiovascular Society Consensus Conference 2001 update: Recommendations for the Management of Adults with Congenital Heart Disease--Part II. Can J Cardiol 2001; 17:1029.
- Bonow RO, Carabello BA, Chatterjee K, et al. 2008 Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the 1998 Guidelines for the Management of Patients With Valvular Heart Disease): endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. Circulation 2008; 118:e523.
- Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266.
- Lupton M, Oteng-Ntim E, Ayida G, Steer PJ. Cardiac disease in pregnancy. Curr Opin Obstet Gynecol 2002; 14:137.
- De Santis M, Straface G, Cavaliere AF, et al. Gadolinium periconceptional exposure: pregnancy and neonatal outcome. Acta Obstet Gynecol Scand 2007; 86:99.
- http://www.marfan.org/resource/fact-sheet/family-planning-and-pregnancy#.VGzS9Y0o72d (Accessed on November 19, 2014).
- Houston L, Tuuli M, Macones G. Marfan syndrome and aortic dissection in pregnancy. Obstet Gynecol 2011; 117:956.
- Buser RT, Mordecai MM, Brull SJ. Combined spinal-epidural analgesia for labor in a patient with Marfan's syndrome. Int J Obstet Anesth 2007; 16:274.
- Lacassie HJ, Millar S, Leithe LG, et al. Dural ectasia: a likely cause of inadequate spinal anaesthesia in two parturients with Marfan's syndrome. Br J Anaesth 2005; 94:500.
- Meijboom LJ, Drenthen W, Pieper PG, et al. Obstetric complications in Marfan syndrome. Int J Cardiol 2006; 110:53.
- www.cdc.gov (Accessed on April 30, 2010).
- Rahman J, Rahman FZ, Rahman W, et al. Obstetric and gynecologic complications in women with Marfan syndrome. J Reprod Med 2003; 48:723.
- Gebker R, Gomaa O, Schnackenburg B, et al. Comparison of different MRI techniques for the assessment of thoracic aortic pathology: 3D contrast enhanced MR angiography, turbo spin echo and balanced steady state free precession. Int J Cardiovasc Imaging 2007; 23:747.
- Krishnam MS, Tomasian A, Malik S, et al. Image quality and diagnostic accuracy of unenhanced SSFP MR angiography compared with conventional contrast-enhanced MR angiography for the assessment of thoracic aortic diseases. Eur Radiol 2010; 20:1311.
- Parry AJ, Westaby S. Cardiopulmonary bypass during pregnancy. Ann Thorac Surg 1996; 61:1865.