Pregnancy in women with Marfan syndrome

Abstract

Background: The Marfan syndrome is inherited as an autosomal dominant trait, and the fetus has a 50% risk of inheriting the mutant gene. It is caused by an abnormal fibrin gene located on chromosome 15q. The prevalence of the syndrome is 7–17/100 000. The symptoms and complications usually affect ocular, skeletal and cardiovascular systems. Pregnancy in the Marfan syndrome is associated with major problems: the first are maternal catastrophic cardiovascular complications which include aortic dissection, aortic rupture, or cardiac failure, due to mitral and aortic valve regurgitation. These conditions are responsible for 90% of the maternal deaths. The second problem is the risk of having a child with the syndrome (50%).Case report: An 18‐year‐old patient with a Marfan syndrome and with mental retardation. She had long limbs, slenderness of hands and feet, marked hyperextensible joints, kyphoscoliosis, narrow chest with pectum excavatum, an high arched palate with malocclusion. On first evaluation by US, she was 18 weeks pregnant. A maternal echocardiography was done, showing that all four chambers, and the valvular structures were normal, and the aortic root measured 26 mm, which was normal. The echocardiography was repeated at weeks 29 and 36, and showed no change in the aortic root or in the rest of the parameters. Study of the fetus showed normal anatomy, without morphotype of Marfan in utero. Fetal echocardiography was normal. There was moderate IUGR. At 39th week, there was a vaginal delivery, without complications, of a male newborn, 2910 g, 49 cm, Apgar 9–9, on a normal physical examination.Conclusions: Maternal and fetal outcomes were monitored with systematic echocardiography, which is the best and safest method available for the follow up of the severe cardiovascular complications. Patients with Marfan syndrome with aortic root of <40 mm, usually tolerate pregnancy well and can undergo vaginal delivery with epidural anesthesia, with favorable maternal and fetal outcomes.