ArticleJournal of the American College of Cardiology2011
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
Article in Journal of the American College of Cardiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 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
115 citing papers in PubMed, 232 citations in OpenAlex.
- Differential expression of genes participating in cardiomyocyte electrophysiological remodeling via membrane ionic mechanisms and CaMolecular and cellular biochemistry · 2020Trial
- Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.PloS one · 2013Trial
- The infero-apical left ventricular aneurysm and long QT syndrome caused by mutation delKKP 1504-1506 in SCN5A gene.BMC medical genomics · 2026Article
- Genotype-Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations.Health science reports · 2026Article
- Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation.BMC cardiovascular disorders · 2026Article
- Emerging Mechanisms and Therapeutic Strategies in Dilated Cardiomyopathy.Biomedicines · 2026Review
- Abnormal electrocardiogram findings in athletes.European heart journal · 2026Review
- Pediatric dilated cardiomyopathy and the progression to heart failure: mechanisms and interventions focusing on the "gene-inflammation-metabolism" axis.Frontiers in cardiovascular medicine · 2026Review
- Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications.Journal of clinical medicine · 2025Review
- Review
- SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.Current cardiology reports · 2025Review
- Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine.Nature reviews. Cardiology · 2025Review
- Machine Learning Algorithm-Based Discovery of Potential Regulators of Immune-Related Dilated Cardiomyopathy.Acta Cardiologica Sinica · 2025Article
- Review
- Mechanisms underlying dilated cardiomyopathy associated with FKBP12 deficiency.The Journal of general physiology · 2025Article
- The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.Heart failure reviews · 2025Review
- Generation of two iPSC lines from dilated cardiomyopathy patients with pathogenic variants in the SCN5A gene.Stem cell research · 2024Article
- What Do We Know about Peripartum Cardiomyopathy? Yesterday, Today, Tomorrow.International journal of molecular sciences · 2024Review
- Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice.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 · 2024Article
- Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.Medicina (Kaunas, Lithuania) · 2024Review
55 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
objectivesThe aim of this study was to discern the role of the cardiac voltage-gated sodium ion channel SCN5A in the etiology of dilated cardiomyopathy (DCM).
backgroundDilated cardiomyopathy associates with mutations in the SCN5A gene, but the frequency, phenotype, and causative nature of these associations remain the focus of ongoing investigation.
methodsSince 1991, DCM probands and family members have been enrolled in the Familial Cardiomyopathy Registry and extensively evaluated by clinical phenotype. Genomic deoxyribonucleic acid samples from 338 individuals among 289 DCM families were obtained and screened for SCN5A mutations by denaturing high-performance liquid chromatography and sequence analysis.
resultsWe identified 5 missense SCN5A mutations among our DCM families, including novel mutations E446K, F1520L, and V1279I, as well as previously reported mutations D1275N and R222Q. Of 15 SCN5A mutation carriers in our study, 14 (93%) manifested arrhythmia: supraventricular arrhythmia (13 of 15), including sick sinus syndrome (5 of 15) and atrial fibrillation (9 of 15), ventricular tachycardia (5 of 15), and conduction disease (9 of 15).
conclusionsMutations in SCN5A were detected in 1.7% of DCM families. Two-thirds (6 of 9) of all reported DCM mutations in SCN5A localize to the highly conserved homologous S3 and S4 transmembrane segments, suggesting a shared mechanism of disruption of the voltage-sensing mechanism of this channel leading to DCM. Not surprisingly, SCN5A mutation carriers show a strong arrhythmic pattern that has clinical and diagnostic implications.
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.