ArticleNature communications2016
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
82 citing papers in PubMed, 2 syntheses or guidelines pooled it, 139 citations in OpenAlex.
- Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.Nature genetics · 2025Pooled it
- Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.Nature genetics · 2025Pooled it
- Atrial Cardiomyopathy: Pathophysiology, Diagnostic Approaches, and Prognostic Implications-A Narrative Review.Journal of clinical medicine · 2026Review
- The Role of MYH6 Variants in atrial cardiomyopathy: insights from clinical observations and zebrafish models.NPJ genomic medicine · 2026Article
- An epigenomic investigation of atrial fibrillation in a matched left and right atrial human cohort.Clinical epigenetics · 2026Article
- SpatialDG: a novel spatial domain identification method for spatially resolved transcriptomics data based on dual-graph neural network.Briefings in bioinformatics · 2026Article
- Association of radiotherapy with atrial fibrillation-related gene expression in breast cancer patients: a study based on the TCGA-BRCA database.Discover oncology · 2026Article
- Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications.Journal of clinical medicine · 2025Review
- Unravelling Sex Disparities in the Pathophysiology of Atrial Fibrillation: Review of the Current Evidence.Journal of cardiovascular electrophysiology · 2025Review
- Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation.Circulation. Genomic and precision medicine · 2025Article
- Plasma Proteomics Reveals Dysregulated Pathways Across the SpectrumCirculation. Genomic and precision medicine · 2025Article
- Genetic Animal Models of Cardiovascular Pathologies.Biomedicines · 2025Review
- Generation and characterization of a DYNLT1-knockout mouse model reveals electrophysiological alterations and potential mechanistic contributors to atrial fibrillation.Biology open · 2025Article
- Atrial Cardiomyopathy in Atrial Fibrillation: A Multimodal Diagnostic Framework.Diagnostics (Basel, Switzerland) · 2025Review
- Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.Calcified tissue international · 2024Review
- Genetic testing in early-onset atrial fibrillation.European heart journal · 2024Review
- Atrial cardiomyopathy revisited-evolution of a concept: a clinical consensus statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart Rhythm Society (HRS), the Asian Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).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
- Exploring Atrial Fibrillation: Understanding the Complex Relation Between Lifestyle and Genetic Factors.Journal of medical cases · 2024Article
- Genetics, transcriptomics, metagenomics, and metabolomics in the pathogenesis and prediction of atrial fibrillation.European heart journal supplements : journal of the European Society of Cardiology · 2024Article
- Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.JACC. Basic to translational science · 2024Review
22 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
Atrial fibrillation (AF), the most common arrhythmia, is a growing epidemic with substantial morbidity and economic burden. Mechanisms underlying vulnerability to AF remain poorly understood, which contributes to the current lack of highly effective therapies. Recognizing mechanistic subtypes of AF may guide an individualized approach to patient management. Here, we describe a family with a previously unreported syndrome characterized by early-onset AF (age <35 years), conduction disease and signs of a primary atrial myopathy. Phenotypic penetrance was complete in all mutation carriers, although complete disease expressivity appears to be age-dependent. We show that this syndrome is caused by a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4. In zebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical abnormalities associated with human AF. These findings describe the cause of a rare subtype of AF due to a primary, atrial-specific sarcomeric defect.
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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.