关键词: Dilatative cardiomyopathies Dystocia Hemorrhage, postpartum Nonimmune hydrops fetalis Syndrome

来  源:   DOI:10.1007/s10354-024-01041-z

Abstract:
Mirror syndrome (Ballantyne syndrome) is a rare condition characterized by maternal edema, which often affects the lungs. It mirrors the image of fetal and placental edema; therefore, it is also called triple edema. We present the case of a 37-year-old secundigravida, referred to our clinic at 26 weeks of a pregnancy complicated by fetal dilatative restrictive cardiomyopathy and hydrops, placentomegaly, new-onset dyspnea, and maternal calf edema. Due to worsening mirror syndrome, preterm labor was induced. Labor was complicated, with soft tissue dystocia, stillbirth, and postpartum hemorrhage. The first pregnancy was also complicated by fetal right ventricular noncompaction dilatative cardiomyopathy. A eutrophic male child was born vaginally at term and died due to deterioration of the cardiac disease in the third year of life. Next-generation sequencing panel for pediatric cardiology was performed in the deceased child and parents. Two gene variants were recorded: MYOM1: c.770_771delCA (p.Thr257fs) and TPM1: c.814G>A (p.Glu272Lys). Both variants were classified as variants of uncertain significance. This case emphasizes the importance of antenatal counseling, the timing of labor induction, appropriate management of possible complications such as postpartum hemorrhage and soft tissue dystocia, and the interpretation of placental biomarkers in the context of mirror syndrome. Finally, it contributes to understanding the clinical significance of the MYOM1 and TPM1 gene variants.
摘要:
镜像综合征(巴兰坦综合征)是一种罕见的疾病,以母体水肿为特征,经常影响肺部。它反映了胎儿和胎盘水肿的图像;因此,它也被称为三重水肿。我们介绍一个37岁的secundigravida的案例,在怀孕26周时提到我们的诊所,并发胎儿扩张性限制性心肌病和水肿,胎盘肿大,新发呼吸困难,和产妇小腿水肿。由于镜子综合症的恶化,早产是引产。劳动很复杂,软组织难产,死产,产后出血。第一次妊娠也因胎儿右心室致密化不全扩张性心肌病而复杂化。一个富营养化的男性儿童在足月时阴道出生,并在生命的第三年因心脏病恶化而死亡。在死去的孩子和父母中进行了儿科心脏病学的下一代测序小组。记录了两个基因变体:MYOM1:c.770_771delCA(p。Thr257fs)和TPM1:c.814G>A(p。Glu272Lys)。两种变体被分类为具有不确定显著性的变体。这个案例强调了产前咨询的重要性,引产的时机,适当处理可能的并发症,如产后出血和软组织难产,以及镜像综合征背景下胎盘生物标志物的解释。最后,它有助于了解MYOM1和TPM1基因变异的临床意义。
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