Current and future precision therapy approaches in the long QT syndrome.

IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI:10.1515/medgen-2025-2015
Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening
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引用次数: 0

Abstract

The long QT syndrome is a genetic arrhythmia disorder that predisposes patients to ventricular arrhythmias and sudden cardiac death. Pronounced genotype-specific differences in molecular mechanisms, arrhythmia triggers, and arrhythmogenic risk are well established, making the disease a prime candidate for precision medicine approaches in cardiology. In this review, we first highlight the genetic basis of long QT syndrome, clinical genotype differences, and risk prediction approaches. In the second part, we discuss the current standard therapies applicable to all genotypes, as well as both established and emerging gene-specific precision therapy approaches.

长QT综合征目前和未来的精确治疗方法。
长QT综合征是一种遗传性心律失常疾病,易使患者发生室性心律失常和心源性猝死。在分子机制、心律失常触发和致心律失常风险方面明显的基因型特异性差异已经得到了很好的证实,这使得该疾病成为心脏病学中精确医学方法的主要候选者。在这篇综述中,我们首先强调了长QT综合征的遗传基础、临床基因型差异和风险预测方法。在第二部分中,我们讨论了目前适用于所有基因型的标准治疗方法,以及已建立的和新兴的基因特异性精确治疗方法。
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来源期刊
Medizinische Genetik
Medizinische Genetik GENETICS & HEREDITY-
自引率
9.10%
发文量
48
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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