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病例报告：心律失常性二尖瓣脱垂综合征——危险因素是否未被充分诊断？

Case report: arrhythmic mitral valve prolapse syndrome-are risk factors underdiagnosed?

作者信息

Steinmaurer Martina, Sandmeyer Jakob, Sinner Moritz F, Lu Kun, Hagl Christian

机构信息

Klinikum der Universität München, Standort Großhadern, Marchioninistraße 15, 81377 Munich, Germany.

出版信息

Eur Heart J Case Rep. 2024 Aug 16;8(8):ytae372. doi: 10.1093/ehjcr/ytae372. eCollection 2024 Aug.

DOI:10.1093/ehjcr/ytae372
PMID:39156956
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11328526/
Abstract

BACKGROUND

Arrhythmic mitral valve prolapse syndrome (ARMV) is a recognized but underdiagnosed disease pattern. Risk factors for ARMV are established but not very well known, and the association of the structural abnormality with ventricular arrhythmias is incompletely understood.

CASE SUMMARY

Here, we present the case of a young man who presented at our hospital for radiofrequency catheter ablation and mitral valve surgery after two episodes of survived sudden cardiac arrest. We discuss the diagnostic and therapeutic strategies that were used. We shine light on the risk factors for ARMV and why early identification is crucial. We address the topic of primary prevention and its limitations. Finally, we discuss different treatment modalities for patients with ARMV.

DISCUSSION

More awareness for ARMV is crucial. A consensus statement on clinical management exists, but scientific gaps in prospective data for primary prevention need to be filled and there is a need for a better understanding of the pathogenesis of ARMV.

摘要

背景

心律失常性二尖瓣脱垂综合征（ARMV）是一种已被认可但诊断不足的疾病模式。ARMV的危险因素已明确，但尚未广为人知，且结构异常与室性心律失常之间的关联尚未完全明了。

病例摘要

在此，我们报告一例年轻男性患者，其在经历两次心脏骤停存活后到我院接受射频导管消融术和二尖瓣手术。我们讨论了所采用的诊断和治疗策略。我们阐明了ARMV的危险因素以及早期识别为何至关重要。我们探讨了一级预防的话题及其局限性。最后，我们讨论了ARMV患者的不同治疗方式。

讨论

提高对ARMV的认识至关重要。关于临床管理存在一份共识声明，但一级预防前瞻性数据中的科学空白有待填补，且需要更好地理解ARMV的发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/812e16429b29/ytae372f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/ea6251aeb594/ytae372il2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/98f5d1090e22/ytae372f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/62730f00b13a/ytae372f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/0bb5c078890e/ytae372f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/8e840d8aced4/ytae372f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/812e16429b29/ytae372f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/ea6251aeb594/ytae372il2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/98f5d1090e22/ytae372f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/62730f00b13a/ytae372f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/0bb5c078890e/ytae372f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/8e840d8aced4/ytae372f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6b7/11328526/812e16429b29/ytae372f5.jpg

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本文引用的文献

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Arrhythmic risk profile in mitral valve prolapse: A systematic review and metanalysis of 1715 patients.二尖瓣脱垂患者的心律失常风险特征：一项 1715 例患者的系统评价和荟萃分析。
J Cardiovasc Electrophysiol. 2024 Feb;35(2):290-300. doi: 10.1111/jce.16149. Epub 2023 Dec 14.
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The Prevalence and Characteristics of Arrhythmic Mitral Valve Prolapse in Patients With Unexplained Cardiac Arrest.心律失常性二尖瓣脱垂在不明原因心搏骤停患者中的发生率及特征。
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Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives.
致心律失常性二尖瓣脱垂的遗传机制：现状与未来展望
Heart Rhythm O2. 2023 Aug 19;4(9):581-591. doi: 10.1016/j.hroo.2023.08.003. eCollection 2023 Sep.
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Effectiveness of the risk stratification proposed by the 2022 European Heart Rhythm Association Expert Consensus statement on arrhythmic mitral valve prolapse.2022 年欧洲心脏节律协会专家共识声明对心律失常性二尖瓣脱垂的风险分层的有效性。
Am Heart J. 2023 Dec;266:48-60. doi: 10.1016/j.ahj.2023.08.004. Epub 2023 Aug 16.
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Arrhythmic mitral valve prolapse and mitral annular disjunction: pathophysiology, risk stratification, and management.心律失常性二尖瓣脱垂和二尖瓣环分离：病理生理学、风险分层和管理。
Eur Heart J. 2023 Sep 1;44(33):3121-3135. doi: 10.1093/eurheartj/ehad491.
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High-risk phenotypes of arrhythmic mitral valve prolapse: a systematic review and meta-analysis.心律失常性二尖瓣脱垂的高危表型：一项系统评价和荟萃分析。
Acta Cardiol. 2023 Nov;78(9):1012-1019. doi: 10.1080/00015385.2023.2227487. Epub 2023 Jun 26.
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Flecainide in patients with arrhythmic mitral valve syndrome: A case series.氟卡尼用于心律失常性二尖瓣综合征患者：病例系列
Heart Rhythm. 2023 Apr;20(4):635-636. doi: 10.1016/j.hrthm.2022.12.024. Epub 2022 Dec 22.
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EHRA expert consensus statement on arrhythmic mitral valve prolapse and mitral annular disjunction complex in collaboration with the ESC Council on valvular heart disease and the European Association of Cardiovascular Imaging endorsed cby the Heart Rhythm Society, by the Asia Pacific Heart Rhythm Society, and by the Latin American Heart Rhythm Society.欧洲心律协会（EHRA）与欧洲心脏病学会瓣膜性心脏病委员会及欧洲心血管影像协会合作制定的关于心律失常性二尖瓣脱垂和二尖瓣环分离综合征的专家共识声明，得到了心律协会、亚太心律协会和拉丁美洲心律协会的认可。
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The analysis of mitral annular disjunction detected by echocardiography and comparison with previously reported pathological data.超声心动图检测二尖瓣环分离的分析及其与先前报道的病理数据的比较。
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Mitral annular disjunction in myxomatous mitral valve disease: a relevant abnormality recognizable by transthoracic echocardiography.黏液瘤样二尖瓣疾病中的二尖瓣环分离：一种经胸超声心动图可识别的相关异常。
Cardiovasc Ultrasound. 2010 Dec 9;8:53. doi: 10.1186/1476-7120-8-53.