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'.)