致心律失常性右心室心肌病(ARVC):从影像学到遗传学的诊断挑战。

IF 3.7 3区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
Mihnea Casian, Michael Papadakis, Ruxandra Jurcut
{"title":"致心律失常性右心室心肌病(ARVC):从影像学到遗传学的诊断挑战。","authors":"Mihnea Casian, Michael Papadakis, Ruxandra Jurcut","doi":"10.33963/v.phj.102391","DOIUrl":null,"url":null,"abstract":"<p><p>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy, predominantly affecting young males, regardless of ethnicity or race. Due to its variable penetrance, females usually have milder and less malignant phenotypes and it may be diagnosed in older individuals. Accordingly, some affected individuals may remain asymptomatic, while in others sudden cardiac death represents the inaugural symptom. Exercise-related palpitations and syncope are red-flag symptoms in otherwise healthy adolescents and young adults and should be fully investigated, considering ARVC as a potential diagnosis. Clinicians should adopt a cardiomyopathy-oriented mindset which is focused on recognizing suspicious electrocardiogram, structural abnormalities and family history of sudden cardiac death. Complete baseline-investigations should be performed in all individuals in whom ARVC is suspected, regardless of their symptoms. These include multi-modality imaging (echocardiogram, cardiac magnetic resonance imaging), electrocardiogram monitors and maximal exercise tolerance tests. Genetic testing should be regarded as the final piece of the puzzle and offered in individuals with a high pre-test probability. A clinically actionable result allows for predictive family testing and pre-implantation diagnosis. Importantly, it should be offered only with appropriate pre and post-test counselling. Both clinicians and patients should understand that not identifying a disease-causing variant does not exclude ARVC. Finally, three clinical cases illustrating the potential caveats in diagnosing ARVC are discussed.</p>","PeriodicalId":17784,"journal":{"name":"Kardiologia polska","volume":null,"pages":null},"PeriodicalIF":3.7000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Arrhythmogenic right ventricular cardiomyopathies (ARVC): Diagnostic challenges from imaging to genetics.\",\"authors\":\"Mihnea Casian, Michael Papadakis, Ruxandra Jurcut\",\"doi\":\"10.33963/v.phj.102391\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy, predominantly affecting young males, regardless of ethnicity or race. Due to its variable penetrance, females usually have milder and less malignant phenotypes and it may be diagnosed in older individuals. Accordingly, some affected individuals may remain asymptomatic, while in others sudden cardiac death represents the inaugural symptom. Exercise-related palpitations and syncope are red-flag symptoms in otherwise healthy adolescents and young adults and should be fully investigated, considering ARVC as a potential diagnosis. Clinicians should adopt a cardiomyopathy-oriented mindset which is focused on recognizing suspicious electrocardiogram, structural abnormalities and family history of sudden cardiac death. Complete baseline-investigations should be performed in all individuals in whom ARVC is suspected, regardless of their symptoms. These include multi-modality imaging (echocardiogram, cardiac magnetic resonance imaging), electrocardiogram monitors and maximal exercise tolerance tests. Genetic testing should be regarded as the final piece of the puzzle and offered in individuals with a high pre-test probability. A clinically actionable result allows for predictive family testing and pre-implantation diagnosis. Importantly, it should be offered only with appropriate pre and post-test counselling. Both clinicians and patients should understand that not identifying a disease-causing variant does not exclude ARVC. Finally, three clinical cases illustrating the potential caveats in diagnosing ARVC are discussed.</p>\",\"PeriodicalId\":17784,\"journal\":{\"name\":\"Kardiologia polska\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-09-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kardiologia polska\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.33963/v.phj.102391\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kardiologia polska","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.33963/v.phj.102391","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0

摘要

致心律失常性右心室心肌病(ARVC)是一种遗传性心肌病,主要影响年轻男性,与种族无关。由于其渗透性不一,女性的表型通常较轻,恶性程度较低,而且可能在年长者中被诊断出来。因此,一些患者可能没有症状,而另一些患者则以心脏性猝死为首发症状。与运动相关的心悸和晕厥是原本健康的青少年和年轻成年人的先兆症状,应进行全面检查,将 ARVC 作为潜在的诊断依据。临床医生应采取以心肌病为导向的思维方式,重点识别可疑的心电图、结构异常和心脏性猝死家族史。对于所有怀疑患有 ARVC 的患者,无论其症状如何,都应进行全面的基线检查。这些检查包括多模态成像(超声心动图、心脏磁共振成像)、心电图监护仪和最大运动耐量测试。基因检测应被视为最后一块拼图,提供给检测前概率较高的个体。临床可操作的结果可用于预测性家族检测和植入前诊断。重要的是,只有在提供适当的检测前后咨询的情况下才能进行基因检测。临床医生和患者都应该明白,不能确定致病变异并不能排除 ARVC 的可能性。最后,讨论了三个临床病例,说明诊断 ARVC 时可能存在的注意事项。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Arrhythmogenic right ventricular cardiomyopathies (ARVC): Diagnostic challenges from imaging to genetics.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy, predominantly affecting young males, regardless of ethnicity or race. Due to its variable penetrance, females usually have milder and less malignant phenotypes and it may be diagnosed in older individuals. Accordingly, some affected individuals may remain asymptomatic, while in others sudden cardiac death represents the inaugural symptom. Exercise-related palpitations and syncope are red-flag symptoms in otherwise healthy adolescents and young adults and should be fully investigated, considering ARVC as a potential diagnosis. Clinicians should adopt a cardiomyopathy-oriented mindset which is focused on recognizing suspicious electrocardiogram, structural abnormalities and family history of sudden cardiac death. Complete baseline-investigations should be performed in all individuals in whom ARVC is suspected, regardless of their symptoms. These include multi-modality imaging (echocardiogram, cardiac magnetic resonance imaging), electrocardiogram monitors and maximal exercise tolerance tests. Genetic testing should be regarded as the final piece of the puzzle and offered in individuals with a high pre-test probability. A clinically actionable result allows for predictive family testing and pre-implantation diagnosis. Importantly, it should be offered only with appropriate pre and post-test counselling. Both clinicians and patients should understand that not identifying a disease-causing variant does not exclude ARVC. Finally, three clinical cases illustrating the potential caveats in diagnosing ARVC are discussed.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Kardiologia polska
Kardiologia polska 医学-心血管系统
CiteScore
3.00
自引率
24.20%
发文量
431
审稿时长
3-6 weeks
期刊介绍: Kardiologia Polska (Kardiol Pol, Polish Heart Journal) is the official peer-reviewed journal of the Polish Cardiac Society (PTK, Polskie Towarzystwo Kardiologiczne) published monthly since 1957. It aims to provide a platform for sharing knowledge in cardiology, from basic science to translational and clinical research on cardiovascular diseases.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信