ArticleEuropean heart journal2015
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.
Article in European heart journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 59 citations in OpenAlex.
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- Evaluating gradient-based explanation methods for neural network ECG analysis using heatmaps.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- From genes to clinical management: A comprehensive review of long QT syndrome pathogenesis and treatment.Heart rhythm O2 · 2024Review
- Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023Article
- Usefulness of Heat Map Explanations for Deep-Learning-Based Electrocardiogram Analysis.Diagnostics (Basel, Switzerland) · 2023Article
- Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.Circulation. Genomic and precision medicine · 2022Article
- Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.Frontiers in cardiovascular medicine · 2022Review
- DeepFake electrocardiograms using generative adversarial networks are the beginning of the end for privacy issues in medicine.Scientific reports · 2021Article
- InvestigatingInternational journal of molecular sciences · 2021Article
- Explaining deep neural networks for knowledge discovery in electrocardiogram analysis.Scientific reports · 2021Article
- Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.Molecular genetics and metabolism reports · 2020Article
- Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.Frontiers in physiology · 2020Article
- Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.European journal of human genetics : EJHG · 2019Article
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.Human mutation · 2019Article
- Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.Journal of the American Heart Association · 2018Article
- Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.International journal of legal medicine · 2018Article
- Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes.European journal of human genetics : EJHG · 2018Article
- Brugada Syndrome-Associated Genetic Loci Are Associated With J-Point Elevation and an Increased Risk of Cardiac Arrest.Frontiers in physiology · 2018Article
- Re-evaluating pathogenicity of variants associated with the long QT syndrome.Journal of cardiovascular electrophysiology · 2018Article
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Authors and funding
17 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsWe studied whether variants previously associated with congenital long QT syndrome (cLQTS) have an effect on the QTc interval in a Danish population sample. Furthermore, we assessed whether carriers of variants in cLQTS-associated genes are more prone to experience syncope compared with non-carriers and whether carriers have an increased mortality compared with non-carriers. METHODS AND
resultsAll genetic variants previously associated with cLQTS were surveyed using the Human Gene Mutation Database. We screened a Danish population-based sample with available whole-exome sequencing data (n = 870) and genotype array data (n = 6161) for putative cLQTS genetic variants. In total, 33 of 1358 variants previously reported to associate with cLQTS were identified. Of these, 10 variants were found in 8 or more individuals. Electrocardiogram results showed normal mean QTc intervals in carriers compared with non-carriers. Syncope data analysis between variant and non-variant carriers showed that 4 of 227 (1.8%) and 95 of 5861 (1.6%) individuals, respectively, had experienced syncope during follow-up (P = 0.80). There was no significant difference in overall mortality rates between carriers [7/217 (3.2%)] and non-carriers [301/6453 (4.7%)] (P = 0.24).
conclusionWe present QTc data and register data, indicating that 26 cLQTS-associated variants neither had any effect on the QTc intervals nor on syncope propensity or overall mortality. Based on the frequency of individual gene variants, we suggest that the 10 variants frequently identified, assumed to relate to cLQTS, are less likely to associate with a dominant monogenic form of the disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.