Calsequestrin 2基因纯合致病变异引起的儿茶酚胺能多态性室性心动过速

IF 0.5 4区医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Kardiologiya Pub Date : 2025-04-30 DOI:10.18087/cardio.2025.4.n2877

S M Komissarova, N N Chakova, S S Niyazova, T V Dolmatovich, T A Troyanova-Shchutskaia, N M Rineiska

{"title":"Calsequestrin 2基因纯合致病变异引起的儿茶酚胺能多态性室性心动过速","authors":"S M Komissarova, N N Chakova, S S Niyazova, T V Dolmatovich, T A Troyanova-Shchutskaia, N M Rineiska","doi":"10.18087/cardio.2025.4.n2877","DOIUrl":null,"url":null,"abstract":"The article presents a clinical case of a 19-year-old patient with catecholaminergic polymorphic ventricular tachycardia caused by the pathogenic homozygous variant p.Ile193Asnfs*17 (rs397516643) in the CASQ2 gene, the early manifestations of which were recurrent syncope during emotional stress, supraventricular and polymorphic ventricular arrhythmias in the absence of structural changes in the heart. The article showed the evolution of heart rhythm disorders during the observation period. The authors discussed the issues of risk stratification for sudden cardiac death and the strategy for its prevention in this pathology.","PeriodicalId":54750,"journal":{"name":"Kardiologiya","volume":"65 4","pages":"57-64"},"PeriodicalIF":0.5000,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene].\",\"authors\":\"S M Komissarova, N N Chakova, S S Niyazova, T V Dolmatovich, T A Troyanova-Shchutskaia, N M Rineiska\",\"doi\":\"10.18087/cardio.2025.4.n2877\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The article presents a clinical case of a 19-year-old patient with catecholaminergic polymorphic ventricular tachycardia caused by the pathogenic homozygous variant p.Ile193Asnfs*17 (rs397516643) in the CASQ2 gene, the early manifestations of which were recurrent syncope during emotional stress, supraventricular and polymorphic ventricular arrhythmias in the absence of structural changes in the heart. The article showed the evolution of heart rhythm disorders during the observation period. The authors discussed the issues of risk stratification for sudden cardiac death and the strategy for its prevention in this pathology.\",\"PeriodicalId\":54750,\"journal\":{\"name\":\"Kardiologiya\",\"volume\":\"65 4\",\"pages\":\"57-64\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-04-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kardiologiya\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.18087/cardio.2025.4.n2877\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kardiologiya","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.18087/cardio.2025.4.n2877","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}

引用次数: 0

摘要

本文报道1例由CASQ2基因致病性纯合子变异p.i ile193asnfs *17 （rs397516643）引起的19岁儿茶酚胺能型多态室性心动过速的临床病例，其早期表现为情绪应激时复发性晕厥、室上型和多态室性心律失常，心脏无结构改变。观察期间心律失常的演变情况。作者讨论了心脏性猝死的危险分层问题及其在该病理学中的预防策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene].

The article presents a clinical case of a 19-year-old patient with catecholaminergic polymorphic ventricular tachycardia caused by the pathogenic homozygous variant p.Ile193Asnfs*17 (rs397516643) in the CASQ2 gene, the early manifestations of which were recurrent syncope during emotional stress, supraventricular and polymorphic ventricular arrhythmias in the absence of structural changes in the heart. The article showed the evolution of heart rhythm disorders during the observation period. The authors discussed the issues of risk stratification for sudden cardiac death and the strategy for its prevention in this pathology.

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

Kardiologiya 医学-心血管系统

CiteScore

1.70

自引率

20.00%

发文量

审稿时长

3-8 weeks

期刊介绍： “Kardiologiya” (Cardiology) is a monthly scientific, peer-reviewed journal committed to both basic cardiovascular medicine and practical aspects of cardiology. As the leader in its field, “Kardiologiya” provides original coverage of recent progress in cardiovascular medicine. We publish state-of-the-art articles integrating clinical and research activities in the fields of basic cardiovascular science and clinical cardiology, with a focus on emerging issues in cardiovascular disease. Our target audience spans a diversity of health care professionals and medical researchers working in cardiovascular medicine and related fields. The principal language of the Journal is Russian, an additional language – English (title, authors’ information, abstract, keywords). “Kardiologiya” is a peer-reviewed scientific journal. All articles are reviewed by scientists, who gained high international prestige in cardiovascular science and clinical cardiology. The Journal is currently cited and indexed in major Abstracting & Indexing databases: Web of Science, Medline and Scopus. The Journal''s primary objectives Contribute to raising the professional level of medical researchers, physicians and academic teachers. Present the results of current research and clinical observations, explore the effectiveness of drug and non-drug treatments of heart disease, inform about new diagnostic techniques; discuss current trends and new advancements in clinical cardiology, contribute to continuing medical education, inform readers about results of Russian and international scientific forums; Further improve the general quality of reviewing and editing of manuscripts submitted for publication; Provide the widest possible dissemination of the published articles, among the global scientific community; Extend distribution and indexing of scientific publications in major Abstracting & Indexing databases.