Marfan Syndrome And Pregnancy

The two major issues in pregnancy are the risk of cardiovascular complications in an affected mother and the 50% risk of transmission of Marfan syndrome to the fetus. The risk of aortic dissection in pregnancy is increased, and may be caused by inhibition of collagen and elastin deposition in the aorta by oestrogen, and the hyperdynamic hypervolaemic circulatory state of pregnancy. Gestational hypertension and pre-eclampsia may increase the risk of aortic rupture. Most complications occur in women with pre-existing cardiac disease. In three recent studies, two retrospective and one prospective, nine women in 83 (11%) had severe complications, mostly aortic rupture, although endocarditis was also reported. Cardiovascular complications appear more likely if the aortic root is greater than 4 cm at the start of pregnancy, or dilates rapidly.19 P Blockers should be continued throughout pregnancy. With regard to the risk of transmission of Marfan syndrome to the fetus, genetic counselling should be offered to women of childbearing age with Marfan syndrome. Mutation detection or linkage can be used for prenatal diagnosis in some families if the parents wish, but fetal ultrasound scanning is unreliable.

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