Thomas Katharine E, Hogan Jennifer, Pitcher Alex, Mackillop Lucy, Blair Edward, Frise Charlotte J
Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Coombe Women and Infants University Hospital, Dublin, Ireland.
Obstet Med. 2021 Mar;14(1):42-45. doi: 10.1177/1753495X19852819. Epub 2019 Jun 15.
Loeys-Dietz syndrome is a recently described condition which causes cardiovascular, craniofacial, neurocognitive and skeletal abnormalities due to mutations in components of the transforming growth factor-β signalling pathway. Associated vascular abnormalities include vessel tortuosity and an increased incidence of vascular dissection. Pregnancy increases the risk of aortic dissection compared to non-pregnant individuals and an underlying condition such as Loeys-Dietz syndrome increases this further. While aortic dissection is well described in pregnancy in Loeys-Dietz syndrome, some women can have uncomplicated deliveries, particularly when the risks of the condition are actively managed. Such pregnancies should be considered high-risk, and women should be counselled and managed accordingly. Here we describe two pregnancies in one woman, both with successful outcomes, followed by a summary of the key management principles.
洛伊氏综合征是一种最近才被描述的疾病，由于转化生长因子-β信号通路成分的突变，它会导致心血管、颅面、神经认知和骨骼异常。相关的血管异常包括血管迂曲和血管夹层发生率增加。与未怀孕个体相比，怀孕会增加主动脉夹层的风险，而诸如洛伊氏综合征等潜在疾病会进一步增加这种风险。虽然洛伊氏综合征患者孕期主动脉夹层已有充分描述，但一些女性可以顺利分娩，尤其是在对病情风险进行积极管理的情况下。此类妊娠应被视为高危妊娠，应对女性进行相应的咨询和管理。在此，我们描述了一名女性的两次妊娠，均获得成功结局，随后总结了关键的管理原则。
