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胎儿磁心动图对18三体综合征合并R1193Q变异胎儿房室传导阻滞和QT间期延长的产前诊断

Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and R1193Q Variant.

作者信息

Lin Lisheng, Takahashi-Igari Miho, Kato Yoshiaki, Nozaki Yoshihiro, Obata Mana, Hamada Hiromi, Horigome Hitoshi

机构信息

Department of Child Health, University of Tsukuba, Tsukuba, Japan.

Department of Pediatric Cardiology, Ibaraki Children's Hospital, Mito, Japan.

出版信息

Case Rep Pediatr. 2017;2017:6570465. doi: 10.1155/2017/6570465. Epub 2017 May 30.

DOI:10.1155/2017/6570465
PMID:28638671
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5468569/
Abstract

We report a case of fetal trisomy 18 with R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a R1193Q variant, which we considered could account for the various arrhythmias in this case.

摘要

我们报告一例患有R1193Q变异的胎儿18三体综合征，该胎儿表现为窦性心动过缓、2∶1房室传导阻滞（AVB）和QT间期延长。这些复杂心律失常通过胎儿心脏磁图结合超声检查结果得以诊断。出生后证实存在进展性AVB和室性心律失常。对该婴儿的基因检测发现了R1193Q变异，我们认为这可能是该病例中各种心律失常的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d666/5468569/7c8de5a39ce0/CRIPE2017-6570465.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d666/5468569/4de7da0c247e/CRIPE2017-6570465.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d666/5468569/7c8de5a39ce0/CRIPE2017-6570465.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d666/5468569/4de7da0c247e/CRIPE2017-6570465.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d666/5468569/7c8de5a39ce0/CRIPE2017-6570465.002.jpg

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本文引用的文献

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Long QT syndrome-associated mutations in intrauterine fetal death.与长 QT 综合征相关的胎儿宫内死亡突变。
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First-trimester sonographic findings in trisomy 18: a review of 53 cases.18 三体综合征的早孕期超声表现：53 例病例回顾。
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