Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening
{"title":"Current and future precision therapy approaches in the long QT syndrome.","authors":"Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening","doi":"10.1515/medgen-2025-2015","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"189-196"},"PeriodicalIF":1.4000,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268256/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2025-2015","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/7/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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.
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.