The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.

IF 15.1 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Annual review of medicine Pub Date : 2024-11-05 DOI:10.1146/annurev-med-042423-042903
Enya Dewars, Andrew Landstrom
{"title":"The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.","authors":"Enya Dewars, Andrew Landstrom","doi":"10.1146/annurev-med-042423-042903","DOIUrl":null,"url":null,"abstract":"<p><p>Sudden cardiac death (SCD) is an abrupt, tragic manifestation of a number of cardiovascular diseases, primarily ion channelopathies and heritable cardiomyopathies. Because these diseases are heritable, genetics play a key role in the diagnosis and management of SCD-predisposing diseases. Historically, genetics have been used to confirm a diagnosis and identify at-risk family members, but a deeper understanding of the genetic causes of SCD could pave the way for individualized therapy, early risk detection, and a transformative shift toward genetically informed therapies. This review focuses on the evolving genetic landscape of SCD-predisposing diseases, the current state of gene therapy and therapeutic development, and the promise of using predictive genetics to identify individuals at risk of SCD.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":""},"PeriodicalIF":15.1000,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual review of medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1146/annurev-med-042423-042903","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0

Abstract

Sudden cardiac death (SCD) is an abrupt, tragic manifestation of a number of cardiovascular diseases, primarily ion channelopathies and heritable cardiomyopathies. Because these diseases are heritable, genetics play a key role in the diagnosis and management of SCD-predisposing diseases. Historically, genetics have been used to confirm a diagnosis and identify at-risk family members, but a deeper understanding of the genetic causes of SCD could pave the way for individualized therapy, early risk detection, and a transformative shift toward genetically informed therapies. This review focuses on the evolving genetic landscape of SCD-predisposing diseases, the current state of gene therapy and therapeutic development, and the promise of using predictive genetics to identify individuals at risk of SCD.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
心脏性猝死的遗传基础:从诊断到新兴基因疗法》。
心脏性猝死(SCD)是多种心血管疾病(主要是离子通道疾病和遗传性心肌病)的一种突发性悲剧表现。由于这些疾病具有遗传性,因此遗传学在 SCD 易感疾病的诊断和管理中起着关键作用。从历史上看,遗传学一直被用于确诊和识别高危家庭成员,但深入了解 SCD 的遗传原因可为个体化治疗、早期风险检测和向遗传知情疗法的转变铺平道路。本综述将重点介绍 SCD 易感性疾病不断演变的遗传情况、基因治疗和疗法开发的现状,以及利用预测性遗传学识别 SCD 高危个体的前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Annual review of medicine
Annual review of medicine 医学-医学:内科
CiteScore
24.90
自引率
0.00%
发文量
58
期刊介绍: The Annual Review of Medicine, which has been published since 1950, focuses on important advancements in diverse areas of medicine. These include AIDS/HIV, cardiology, clinical pharmacology, dermatology, endocrinology/metabolism, gastroenterology, genetics, immunology, infectious disease, neurology, oncology/hematology, pediatrics, psychiatry, pulmonology, reproductive medicine, and surgery. The journal's current volume has transitioned from a gated access model to an open access model through the Annual Reviews' Subscribe to Open program. All articles published in the journal are now available under a CC BY license.
期刊最新文献
Endoscopic Approaches for Managing Small Intestinal Disease. Care Models for Cancer Survivors. Candida auris: Epidemiology and Antifungal Strategy. Application and Expectations for Immune Checkpoint Blockade of LAG3 and TIGIT. New Approaches to Respiratory Syncytial Virus Prevention and Treatment.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1