精准医学在心律失常治疗中的应用。

IF 1.1 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS
Herz Pub Date : 2025-04-01 Epub Date: 2025-03-08 DOI:10.1007/s00059-025-05298-x
Felix Wiedmann, Constanze Schmidt
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引用次数: 0

摘要

心脏电生理学的精准医学通过整合遗传、环境和生活方式因素来定制诊断、治疗和预防。与传统的、一般化的策略不同,精准医学侧重于患者的个体特征来加强护理。已经取得了重大进展,特别是在管理渠道病变方面,基因的洞察力现在已经推动了个性化治疗。识别特定突变澄清了分子机制,使有针对性的干预成为可能,改善了长QT综合征等疾病的预后。来自临床记录、组学数据集和来自心脏植入式电子设备(cied)或可穿戴设备等设备的生物信号的大数据的整合可能会再次彻底改变心律失常的诊断。在人类诱导的多能干细胞(hiPSCs)和计算机建模领域也有望取得进展,这可能会克服传统表达系统的局限性,用于患者特异性突变的功能评估。全基因组关联研究(GWAS)和多基因风险评分(PRS)为复杂的心律失常提供了更深入的见解,有助于风险分层和有针对性的治疗策略。最后,CRISPR/Cas9等新兴技术有望对遗传性和获得性心律失常进行基因编辑。总之,精准医学为心律失常的个体化治疗提供了可能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Precision medicine in the management of cardiac arrhythmias.

Precision medicine in cardiac electrophysiology tailors diagnosis, treatment, and prevention by integrating genetic, environmental, and lifestyle factors. Unlike traditional, generalized strategies, precision medicine focuses on individual patient characteristics to enhance care. Significant progress has been made, especially in managing channelopathies, where genetic insights now already drive personalized therapies. Identifying specific mutations has clarified molecular mechanisms and enabled targeted interventions, improving outcomes in conditions such as long QT syndrome. The integration of big data from clinical records, omics datasets, and biosignals from devices such as cardiac implantable electronic devices (CIEDs) or wearables may be on the verge of revolutionizing the diagnosis of cardiac arrhythmias once again. Progress is also expected in the field of human-induced pluripotent stem cells (hiPSCs) and in silico modeling, which may overcome the limitations of traditional expression systems for the functional evaluation of patient-specific mutations. Genome-wide association studies (GWAS) and polygenic risk scores (PRS) provide deeper insights into complex arrhythmogenic disorders, aiding in risk stratification and targeted treatment strategies. Finally, emerging technologies such as CRISPR/Cas9 promise gene editing for inherited and acquired arrhythmias. In summary, precision medicine offers the potential for individualized treatment of cardiac arrhythmias.

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来源期刊
Herz
Herz 医学-心血管系统
CiteScore
3.00
自引率
5.90%
发文量
61
审稿时长
4-8 weeks
期刊介绍: Herz is the high-level journal for further education for all physicians interested in cardiology. The individual issues of the journal each deal with specific topics and comprise review articles in English and German written by competent and esteemed authors. They provide up-to-date and comprehensive information concerning the speciality dealt with in the issue. Due to the fact that all relevant aspects of the pertinent topic of an issue are considered, an overview of the current status and progress in cardiology is presented. Reviews and original articles round off the spectrum of information provided.
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