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.
Pregnancy is a high-risk period for aortic dissection and rupture for 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].
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. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Management of Marfan syndrome and related disorders".)
Two issues must be addressed with respect to women with MFS who are considering pregnancy: assessment of the risk of aortic dissection/rupture; and management during pregnancy, including issues related to delivery. Counseling regarding the risk of inheritance of this autosomal dominant condition is also indicated. The 50 percent chance of transmission from an affected mother to her child, phenotypic variability, and the availability of prenatal diagnostic testing should be discussed. These issues are discussed in detail separately. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders".)
ASSESSMENT OF RISK OF AORTIC DISSECTION/RUPTURE
Pregnant women with MFS with aortic root dilatation are at increased risk for aortic dissection and/or rupture, although a normal dimension does not exclude the possibility of dissection [2-4]. This risk and the potential alternatives (childlessness, adoption, and use of a gestational carrier or surrogate pregnancy) should be discussed with the patient.