ArticleCirculation. Heart failure2019
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Article in Circulation. Heart failure, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 1 of them a synthesis that pooled it.
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Who cites it
83 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.
- Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.Biomolecules · 2024Pooled it
- Non-Dilated Left Ventricular Cardiomyopathy: Exploring the Spectrum from Phenotype to Disease Entity.Journal of clinical medicine · 2026Review
- Cytoplasmic RBM20 granules modulate non-RBM20 target splicing through interactions with other splicing factors.Nucleic acids research · 2026Article
- Predicting Sudden Cardiac Death in Heart Failure with Mildly Reduced/Preserved Left Ventricular Ejection Fraction: A Clinical Review.Journal of clinical medicine · 2026Review
- Review
- Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.Nature reviews. Cardiology · 2026Review
- Dilated cardiomyopathy-associated RNA-binding motif protein 20 regulates long pre-mRNAs in neurons.eLife · 2026Article
- Pediatric dilated cardiomyopathy and the progression to heart failure: mechanisms and interventions focusing on the "gene-inflammation-metabolism" axis.Frontiers in cardiovascular medicine · 2026Review
- Early Onset Heart Failure due toClinical case reports · 2026Article
- Clinical care of family members of patients with dilated cardiomyopathy.European heart journal · 2025Article
- From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.Journal of cardiovascular development and disease · 2025Review
- Epistasis regulates genetic control of cardiac hypertrophy.Nature cardiovascular research · 2025Article
- Reducing Granules Without Splicing Restoration Alleviates RBM20 Cardiomyopathy.Circulation research · 2025Article
- Deciphering epistatic genetic regulation of cardiac hypertrophy.medRxiv : the preprint server for health sciences · 2025Article
- Age at onset and clinical course of RBM20-mediated cardiomyopathy.Scientific reports · 2025Article
- Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine.Nature reviews. Cardiology · 2025Review
- Alternative splicing factors and cardiac disease: more than just missplicing?RNA (New York, N.Y.) · 2025Article
- Alternative Splicing in the Heart: The Therapeutic Potential of Regulating the Regulators.International journal of molecular sciences · 2024Review
- Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.ESC heart failure · 2024Article
- Integrated proteomics and transcriptomics analysis reveals insights into differences in premature mortality associated with disparate pathogenic RBM20 variants.Journal of molecular and cellular cardiology · 2024Article
23 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 12 institutions in 5 countries.
Funding
Abstract
Background Variants in the cardiomyocyte-specific RNA splicing factor RBM20 have been linked to familial cardiomyopathy, but the causative genetic architecture and clinical consequences of this disease are incompletely defined. Methods and Results To define the genetic architecture of RBM20 cardiomyopathy, we first established a database of RBM20 variants associated with cardiomyopathy and compared these to variants observed in the general population with respect to their location in the RBM20 coding transcript. We identified 2 regions significantly enriched for cardiomyopathy-associated variants in exons 9 and 11. We then assembled a registry of 74 patients with RBM20 variants from 8 institutions across the world (44 index cases and 30 from cascade testing). This RBM20 patient registry revealed highly prevalent family history of sudden cardiac death (51%) and cardiomyopathy (72%) among index cases and a high prevalence of composite arrhythmias (including atrial fibrillation, nonsustained ventricular tachycardia, implantable cardiac defibrillator discharge, and sudden cardiac arrest, 43%). Patients harboring variants in cardiomyopathy-enriched regions identified by our variant database analysis were enriched for these findings. Further, these characteristics were more prevalent in the RBM20 registry than in large cohorts of patients with dilated cardiomyopathy and TTNtv cardiomyopathy and not significantly different from a cohort of patients with LMNA-associated cardiomyopathy. Conclusions Our data establish RBM20 cardiomyopathy as a highly penetrant and arrhythmogenic cardiomyopathy. These findings underline the importance of arrhythmia surveillance and family screening in this disease and represent the first step in defining the genetic architecture of RBM20 disease causality on a population level.
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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.