Loeys-Dietz Syndrome in Pregnancy: A Case Description and Report of a Novel Mutation

Guy Gutman, Hagit N. Baris, Raphael Hirsch, Dror Mandel, Yuval Yaron, Joseph B. Lessing, Michael J. Kuperminc
2009 Fetal Diagnosis and Therapy  
mutation in a family with several individuals who either had aortic rupture and dissection, sudden death or aortic root dilatation. The pregnancy was followed up and the baby was successfully delivered by a cesarean section at 34 weeks of gestation. The mother's recovery was uneventful and the baby was negative for the mutation on postnatal molecular testing. With appropriate supervision and early delivery by cesarean section, women with Loeys-Dietz syndrome can tolerate pregnancy and delivery
more » ... nancy and delivery without any adverse effect. Abstract Loeys-Dietz syndrome is a syndrome caused by heterozygous mutations in the genes encoding type 1 or 2 transforming growth factor-␤ receptor (TGF-␤ -R1/2). The obstetrical manifestations are risk of rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period, and damage to the vagina, perineum and the colon. We describe, for the first time, a new TGF-␤ -R2 gene
doi:10.1159/000236357 pmid:19816028 fatcat:d4ckwmv4ajgjjmmxhtusstm5wi