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胎儿心率过低,这一潜在的不祥发现:病例报告。

Low foetal heart rate, a potentially ominous finding: case report.

作者信息

Afana Andreea Sorina, Filip Cristina, Cimpoca Brindusa, Dumitrascu-Biris Ioana, Jurcut Ruxandra

机构信息

Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, Bucharest 022328, Romania.

Neonatal Intensive Care Unit, University of Medicine and Pharmacy Carol Davila, 8 Eroii Sanitari Blv., Bucharest 050474, Romania.

出版信息

Eur Heart J Case Rep. 2024 Sep 1;8(9):ytae440. doi: 10.1093/ehjcr/ytae440. eCollection 2024 Sep.

Abstract

BACKGROUND

Congenital long QT syndrome (LQTS) type 1 is characterized by abnormally prolonged ventricular repolarization caused by inherited defects in cardiac potassium channels. Patients are predisposed to ventricular arrhythmias and even sudden cardiac death. In some cases, foetal sinus bradycardia is the only sign, making prenatal diagnosis challenging. Physicians should be aware of this subtle presentation of LQTS. Early diagnosis and proactive treatment are crucial for preventing unexpected cardiac events.

CASE SUMMARY

A healthy and asymptomatic 25-year-old pregnant woman was referred to our institute for cardiac evaluation after persistent foetal sinus bradycardia was detected during repeated ultrasounds, despite the absence of any foetal morphological or functional cardiac anomalies. After a thorough assessment, the mother was diagnosed with LQTS type 1, as confirmed by molecular genetic testing. Appropriate management, including maternal medication and increased surveillance, was initiated. The infant was delivered safely, and his electrocardiogram revealed a significantly prolonged QTc interval. Genetic testing confirmed the maternally inherited variant in KCNQ1 gene, and beta-blocker therapy was started. No arrhythmic events were noted.

DISCUSSION

Detection and careful stratification of foetal heart rate (FHR) is crucial in every pregnancy. Foetal bradycardia can be caused by both maternal and foetal factors. Persistent low FHR should raise a high suspicion for LQTS. The condition may also present with atrioventricular blocks, torsades de pointes, or sudden intrauterine foetal demise. Accurate and early diagnosis of LQTS is essential for implementing appropriate management strategies, which include vigilant monitoring, effective medical treatment, careful planning of delivery, and post-natal care.

摘要

背景

1型先天性长QT综合征(LQTS)的特征是心脏钾通道的遗传缺陷导致心室复极异常延长。患者易发生室性心律失常,甚至心源性猝死。在某些情况下,胎儿窦性心动过缓是唯一的体征,这使得产前诊断具有挑战性。医生应意识到LQTS的这种微妙表现。早期诊断和积极治疗对于预防意外心脏事件至关重要。

病例摘要

一名25岁健康无症状的孕妇在多次超声检查中发现持续性胎儿窦性心动过缓后,被转诊至我院进行心脏评估,尽管未发现任何胎儿形态或功能心脏异常。经过全面评估,母亲被诊断为1型LQTS,分子基因检测证实了这一诊断。开始进行适当的管理,包括母亲用药和加强监测。婴儿安全分娩,其心电图显示QTc间期明显延长。基因检测证实了KCNQ1基因的母系遗传变异,于是开始使用β受体阻滞剂治疗。未观察到心律失常事件。

讨论

在每次妊娠中,检测和仔细分层胎儿心率(FHR)至关重要。胎儿心动过缓可由母体和胎儿因素引起。持续性低FHR应高度怀疑LQTS。该疾病还可能表现为房室传导阻滞、尖端扭转型室速或胎儿宫内猝死。准确早期诊断LQTS对于实施适当的管理策略至关重要,这些策略包括密切监测、有效药物治疗、精心规划分娩和产后护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eed4/11366078/30aa6feb87c2/ytae440il2.jpg

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