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本文引用的文献

1
Contemporary Management of Cardiogenic Shock During Pregnancy.妊娠期心原性休克的当代处理方法。
J Card Fail. 2023 Feb;29(2):193-209. doi: 10.1016/j.cardfail.2022.09.014. Epub 2022 Oct 13.
2
Takotsubo Cardiomyopathy and Peripartum Cardiomyopathy.应激性心肌病与围产期心肌病
Int Heart J. 2022;63(4):651-653. doi: 10.1536/ihj.22-133.
3
Peripartum Mid-Ventricular-Type Takotsubo Cardiomyopathy After Cesarean Delivery.剖宫产术后围生期心尖中部型 Takotsubo 心肌病。
Int Heart J. 2022 Jul 30;63(4):782-785. doi: 10.1536/ihj.21-858. Epub 2022 Jul 14.
4
A global perspective on the management and outcomes of peripartum cardiomyopathy: a systematic review and meta-analysis.从全球视角看围产期心肌病的管理和结局:系统评价和荟萃分析。
Eur J Heart Fail. 2022 Sep;24(9):1719-1736. doi: 10.1002/ejhf.2603. Epub 2022 Jul 26.
5
Gestational Diabetes and Incident Heart Failure: A Cohort Study.妊娠期糖尿病与新发心力衰竭:一项队列研究。
Diabetes Care. 2021 Aug 12;44(10):2346-52. doi: 10.2337/dc21-0552.
6
Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.围生期心肌病的遗传与表型特征。
Circulation. 2021 May 11;143(19):1852-1862. doi: 10.1161/CIRCULATIONAHA.120.052395. Epub 2021 Apr 20.
7
Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.围生期心肌病的遗传学:现有知识、未来方向和临床意义。
Genes (Basel). 2021 Jan 15;12(1):103. doi: 10.3390/genes12010103.
8
Clinical presentation, management, and 6-month outcomes in women with peripartum cardiomyopathy: an ESC EORP registry.围生期心肌病患者的临床表现、处理和 6 个月结局:ESC-EORP 注册研究。
Eur Heart J. 2020 Oct 14;41(39):3787-3797. doi: 10.1093/eurheartj/ehaa455.
9
Pathophysiology, diagnosis and management of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy.围生期心肌病的病理生理学、诊断和治疗:欧洲心脏病学会心力衰竭协会围生期心肌病研究组的立场声明。
Eur J Heart Fail. 2019 Jul;21(7):827-843. doi: 10.1002/ejhf.1493. Epub 2019 Jun 27.
10
2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy.2018年欧洲心脏病学会妊娠期心血管疾病管理指南。
Kardiol Pol. 2019;77(3):245-326. doi: 10.5603/KP.2019.0049.

产后心源性休克伴肌联蛋白基因变异快速恢复:遗传易感性在围产期心肌病中的作用

Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy.

作者信息

Karner Eva, Keller Hans, Schäffl-Doweik Lilian, Laccone Franco, Stöllberger Claudia

机构信息

Department of Obstetrics and Gynecology, Medical University of Vienna, Austria.

Department for Cardiology and Intensive Care, Klinik Landstraße, Vienna, Austria.

出版信息

Obstet Med. 2025 Jun;18(2):130-132. doi: 10.1177/1753495X231214379. Epub 2023 Nov 13.

DOI:10.1177/1753495X231214379
PMID:40322672
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12046153/
Abstract

Peripartum cardiomyopathy is defined as heart failure secondary to left ventricular (LV) dysfunction with a left ventricular ejection fraction <45% occurring towards the end of pregnancy or in the months following delivery without other identifiable cause. Pathogenesis of peripartum cardiomyopathy and the role of genetic variants are unknown. We present a previously healthy 33-year-old woman in her first pregnancy with acute onset of heart failure postpartum. She developed cardiogenic shock four days after caesarean section and was treated with levosimendan, cabergoline, ramipril and bisoprolol. She used a wearable cardioverter/defibrillator for 3 months. After 8 months, she was free of symptoms with normal left ventricular function and brain-natriuretic-peptide-levels. Genetic analysis was carried out due to a positive family history and disclosed a heterozygous variant c7627dupA in the gene. Genetic analysis in patients with a positive family history should be carried out since that may provide insights in the pathogenesis of heart failure due to systolic dysfunction including peripartum cardiomyopathy.

摘要

围产期心肌病的定义为

在妊娠晚期或产后数月内,继发于左心室(LV)功能障碍且左心室射血分数<45%的心力衰竭,且无其他可识别病因。围产期心肌病的发病机制以及基因变异的作用尚不清楚。我们报告一名既往健康的33岁初产妇,产后急性发生心力衰竭。她在剖宫产术后4天出现心源性休克,接受了左西孟旦、卡麦角林、雷米普利和比索洛尔治疗。她使用可穿戴式心脏复律除颤器3个月。8个月后,她无症状,左心室功能和脑钠肽水平正常。由于家族史阳性进行了基因分析,结果显示该基因存在杂合变异c7627dupA。对于家族史阳性的患者应进行基因分析,因为这可能为包括围产期心肌病在内的收缩功能障碍所致心力衰竭的发病机制提供见解。