胎儿扩张性心肌病,随后出现镜像综合征。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
Wiener medizinische Wochenschrift Pub Date : 2024-09-01 Epub Date: 2024-06-05 DOI:10.1007/s10354-024-01041-z
Antonio Ivan Miletić, Feodora Stipoljev, Ana Vičić, Alan Šerman, Ivanka Bekavac Vlatković
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引用次数: 0

摘要

镜像综合征(Ballantyne 综合征)是一种罕见的疾病,其特点是母体水肿,通常会影响肺部。它与胎儿和胎盘水肿相似,因此也被称为三重水肿。本病例是一名 37 岁的后位孕妇,在妊娠 26 周时因胎儿扩张性局限性心肌病和肾积水、胎盘肿大、新发呼吸困难和母体小腿水肿而转诊至我院。由于镜像综合征恶化,她被引产。分娩过程很复杂,出现了软组织难产、死胎和产后出血。第一次妊娠还并发了胎儿右心室非充盈性扩张型心肌病。一名经阴道足月出生的富营养男婴在出生后第三年因心脏病恶化而死亡。对死亡儿童及其父母进行了儿科心脏病学下一代测序。记录到两个基因变异:MYOM1:c.770_771delCA (p.Thr257fs) 和 TPM1:c.814G>A (p.Glu272Lys)。这两个变异都被归类为意义不确定的变异。本病例强调了产前咨询、引产时机、产后出血和软组织难产等可能并发症的适当处理以及在镜像综合征背景下解读胎盘生物标记物的重要性。最后,该研究有助于了解 MYOM1 和 TPM1 基因变异的临床意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Dilatative fetal cardiomyopathy followed by a mirror syndrome.

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.

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来源期刊
Wiener medizinische Wochenschrift
Wiener medizinische Wochenschrift MEDICINE, GENERAL & INTERNAL-
CiteScore
2.50
自引率
0.00%
发文量
79
期刊介绍: ''From the microscope to clinical application!'', Scientists from all European countries make available their recent research results and practical experience through Wiener Medizinische Wochenschrift, the renowned English- and German-language forum. Both original articles and reviews on a broad spectrum of clinical and preclinical medicine are presented within the successful framework of thematic issues compiled by guest editors. Selected cutting-edge topics, such as dementia, geriatric oncology, Helicobacter pylori and phytomedicine make the journal a mandatory source of information.
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