ArticleHeart rhythm2008
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
Article in Heart rhythm, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 92 citations in OpenAlex.
- Activation of Small Conductance CaInternational journal of molecular sciences · 2025Article
- Gene therapy for atrial fibrillation.Journal of molecular and cellular cardiology · 2024Review
- Integrative human atrial modelling unravels interactive protein kinase A and Ca2+/calmodulin-dependent protein kinase II signalling as key determinants of atrial arrhythmogenesis.Cardiovascular research · 2023Article
- Tic-Tac: A Translational Approach in Mechanisms Associated with Irregular Heartbeat and Sinus Rhythm Restoration in Atrial Fibrillation Patients.International journal of molecular sciences · 2023Review
- Atrial Fibrillation and Chronic Coronary Ischemia: A Challenging Vicious Circle.Life (Basel, Switzerland) · 2023Review
- Genome-wide analyses identifyiScience · 2022Article
- Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.International journal of molecular sciences · 2022Review
- Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study.Biomolecules · 2021Article
- Mechanisms underlying age-associated manifestation of cardiac sodium channel gain-of-function.Journal of molecular and cellular cardiology · 2021Article
- Atrial Fibrillation in Inherited Channelopathies.Cardiac electrophysiology clinics · 2021Review
- Mexiletine Treatment for Neonatal LQT3 Syndrome: Case Report and Literature Review.Frontiers in pediatrics · 2021Article
- Intracellular calcium leak in heart failure and atrial fibrillation: a unifying mechanism and therapeutic target.Nature reviews. Cardiology · 2020Review
- Genetics and Epigenetics of Atrial Fibrillation.International journal of molecular sciences · 2020Review
- Molecular Basis of Atrial Fibrillation Pathophysiology and Therapy: A Translational Perspective.Circulation research · 2020Review
- Late Sodium Current Inhibitors as Potential Antiarrhythmic Agents.Frontiers in pharmacology · 2020Review
- Heterogeneity of the action potential duration is required for sustained atrial fibrillation.JCI insight · 2019Article
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- Review
- Cardiac Cx43, Cx40 and Cx45 co-assembling: involvement of connexins epitopes in formation of hemichannels and Gap junction channels.BMC cell biology · 2017Review
- Genetic basis of atrial fibrillation.Genes & diseases · 2016Review
Corrections and comments
- Commented on by
Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundType 3 long-QT syndrome (LQT-3) is caused by gain-of-function mutations in the SCN5A encoding the cardiac sodium channel. Familial atrial fibrillation (AF), previously considered a potassium channelopathy, has recently been related to sodium genetic variants, both in isolated forms and in patients with underlying heart disease.
objectiveThe purpose of this study was to describe the first family associating LQT-3 and AF due to a gain-of-function mutation in SCN5A and assess the usefulness of the sodium blocker flecainide in individuals with both phenotypes.
methodsComplete family screening was performed after identifying a proband showing paroxysmal AF and a long QT interval suggestive of LQT-3. Secondary causes of AF were ruled out in all individuals. Flecainide was used in two patients for LQT-3 diagnosis and therapeutic treatment of AF. Genetic screening was performed by direct sequencing of the exons and exon-intron boundaries of SCN5A.
resultsWe identified a three-generation family (eight members), all of them showing long QT intervals. Paroxysmal AF initiated between 20 and 35 years of age in all three adults. The flecainide test led to shortening of the QTc interval. Flecainide was also effective in acutely restoring sinus rhythm. A Y1795C mutation was identified in all members.
conclusionThis is the first report showing an association of familial AF and LQT-3 due to a mutation in SCN5A. This finding provides further evidence of the role of SCN5A in AF. We also confirm the usefulness of flecainide in this particular complex phenotype, both as a diagnostic tool for LQT-3 and as an acute treatment for AF.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.