Pregnancy in the Marfan syndrome

Abstract

Marfan syndrome, an inherited disorder of the connective tissue, has a wide geographic and ethnic distribution. The primary features are arachnodactyly, a characteristic habitus because of excessive length of the limbs, and dislocation of the lens. Cardiovascular complications frequently occur, and a substantial proportion of affected people die from aortic incompetence or dissection secondary to progressive changes in the root of the aorta, the average age of death in a series of 72 patients with the syndrome being 32. What advice can be given to a young woman with Marfan syndrome who is contemplating pregnancy? Can an objective appraisal be made of the risks to the mother and fetus? Lethal or life-threatening aortic dissection has been reported during pregnancy on several occasions, but these patients may have represented extreme examples; many others are known to have had uneventful pregnancies. Whether the recognition of Marfan syndrome in a fetus would justify therapeutic termination of pregnancy is debatable, but prenatal diagnosis by ultrasonography has been attempted in two 'at-risk' pregnancies in the second trimester. In one instance Marfan syndrome was diagnosed by finding excessive length of the fetal limbs, and after termination typical histological changes were seen in the aorta. In the other pregnancy fetal limb length, as determined by ultrasonography, did not differ from normal, and the pregnancy continued to term. By the age of 21 months some disparity was evident, and the child was thought to be probably affected. On this basis it is evident that, though there is a place for antenatal ultrasonography, definitive diagnosis is not always possible.