心脏性猝死的遗传基础：从诊断到新兴基因疗法》。

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

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引用次数: 0

摘要

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。

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

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.

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来源期刊

Annual review of medicine 医学-医学：内科

CiteScore

24.90

自引率

0.00%

发文量

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.

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