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与左心室心肌致密化不全相关的胎儿心动过缓被诊断为HCN4基因突变。

Fetal bradycardia associated with left ventricle noncompaction diagnosed as HCN4 mutations.

作者信息

Yonehara Kosuke

机构信息

Department of Pediatric Cardiology, Nagano Children's Hospital, Nagano, Japan.

出版信息

Ann Pediatr Cardiol. 2024 Jul-Aug;17(4):295-297. doi: 10.4103/apc.apc_138_24. Epub 2024 Nov 15.

DOI:10.4103/apc.apc_138_24
PMID:39698436
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11651398/
Abstract

A 35-year-old pregnant woman was referred to our hospital because of fetal bradycardia. Fetal echocardiography revealed a normal fetal heart except for slightly prominent trabeculae in the left ventricle, normal cardiac function, and fetal sinus bradycardia with a heart rate of 100 bpm. Electrocardiography (ECG) after birth revealed sinus bradycardia with a heart rate of 70-80 bpm. Transthoracic echocardiography revealed left ventricular noncompaction localized in the apex with normal cardiac function. A 24-h Holter ECG showed a heart rate range of 62-169 bpm without a pause of more than 2 s. A genome analysis performed during the neonatal period revealed a heterozygous inflame variant p.(Ser672_Asp676del)[chr15:g. 73324203_733242] in HCN4 gene. Fetuses with a heart rate less than the 3 percentile of the gestational age should be followed and screened for congenital heart disease and cardiomyopathy. In addition, inherited arrhythmia syndrome should be considered.

摘要

一名35岁的孕妇因胎儿心动过缓被转诊至我院。胎儿超声心动图显示，除左心室小梁略突出外，胎儿心脏正常，心功能正常，胎儿窦性心动过缓，心率为100次/分钟。出生后的心电图显示窦性心动过缓，心率为70 - 80次/分钟。经胸超声心动图显示左心室心肌致密化不全位于心尖，心功能正常。24小时动态心电图显示心率范围为62 - 169次/分钟，无超过2秒的停搏。新生儿期进行的基因组分析显示，HCN4基因存在杂合性炎性变体p.(Ser672_Asp676del)[chr15:g. 73324203_733242]。心率低于胎龄第3百分位数的胎儿应进行随访，并筛查先天性心脏病和心肌病。此外，应考虑遗传性心律失常综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f89/11651398/4af756ff87f1/APC-17-295-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f89/11651398/4af756ff87f1/APC-17-295-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f89/11651398/4af756ff87f1/APC-17-295-g001.jpg

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本文引用的文献

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2
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying Pathogenic Variants.携带致病性变异的三个家族中左心室致密化不全心肌病和心动过缓的临床表现
Genes (Basel). 2022 Mar 8;13(3):477. doi: 10.3390/genes13030477.
3
Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?
非致密型心肌病、病态窦房结综合征和主动脉扩张：单一诊断能涵盖这么多情况吗？
JACC Case Rep. 2022 Mar 2;4(5):287-293. doi: 10.1016/j.jaccas.2022.01.013.
4
Clinical Characteristics and Prognosis of Fetal Left Ventricular Noncompaction in Japan.日本胎儿左心室心肌致密化不全的临床特征及预后
Circ J. 2021 Dec 24;86(1):98-105. doi: 10.1253/circj.CJ-20-1148. Epub 2021 Aug 3.
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The missense variant p.(Gly482Arg) in is responsible for fetal tachy-bradycardia syndrome.中的错义变体p.(Gly482Arg) 导致胎儿心动过速-心动过缓综合征。
HeartRhythm Case Rep. 2020 Mar 20;6(6):352-356. doi: 10.1016/j.hrcr.2020.03.003. eCollection 2020 Jun.
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Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.非致密化心肌病的临床和遗传学研究进展：一项基于 7598 例个体的荟萃分析和系统综述
Clin Res Cardiol. 2019 Nov;108(11):1297-1308. doi: 10.1007/s00392-019-01465-3. Epub 2019 Apr 12.
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