[I-P30-05] マルファン症候群における妊娠：母体および胎児の転帰に関連した遺伝子型および表現型
Keywords:Marfan syndrome, FBN1, cardiovascular outcome
Background: Haploinsufficient (HI) FBN1 variants are associated with an increased risk of aortic events in Marfan syndrome (MFS). The rate of aortic complications and fetal outcomes in pregnant MFS patients with HI FBN1 variants has not been previously reported. Methods: Clinical data were collected for 52 MFS pregnant women with HI or dominant negative (DN) variants. Cardiovascular outcomes were aortic dissection, aneurysm rupture, and related death (primary); and aortic corrective surgery and aortic dilation (secondary). We compared the data male and nulligravida female MFS populations (n=82 and 87, respectively). Results: A total 67% of patients (10 DN and 25 HI subjects) developed primary or secondary cardiovascular outcomes, and primary outcomers were 4 times higher in the HI group (P = .01), but not significantly higher than the MFS male or nulligravada population (P = .09 and P = .33, respectively). The perinatal and immediate postpartum periods tended to be associated with a higher rate of aortic dissection (in some cases fatal) in the HI group ( P = .13). There were 11 miscarriages (6 DN and 5 HI), 1 stillborn (DN), and 4 neonatal deaths (1 HI). The miscarriage rate between the DN and HI groups was similar (7.4% vs 6.9%, respectively).Conclusions: Prima- or multiparous female subjects with HI mutations in FBN1 had a higher rate of aortic events compared with those with DN mutations. Our data suggest that women with a suspected MFS may benefit from a genetic screening for MFS and more extensive surveillance during and after pregnancy.