ArticleCirculation. Heart failure2019
Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated 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 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.Biomolecules · 2024Pooled it
- Cytoplasmic RBM20 granules modulate non-RBM20 target splicing through interactions with other splicing factors.Nucleic acids research · 2026Article
- RBM20 variants disrupt CaSignal transduction and targeted therapy · 2026Article
- Genetic counselling implementation in dilated cardiomyopathy.European heart journal · 2026Review
- Epidemiology of non-ischaemic dilated cardiomyopathy.Nature reviews. Cardiology · 2026Review
- Review
- Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay-Lac-Saint-Jean Founder Population.Journal of community genetics · 2026Article
- Early Onset Heart Failure due toClinical case reports · 2026Article
- Epigenetic Regulation in Dilated Cardiomyopathy.Heart failure clinics · 2026Review
- Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.European heart journal · 2025Article
- Using modified mRNA for cardiomyocyte proliferation and cardiac genetic disease modelling and treatment.Biochemical Society transactions · 2025Review
- Reducing Granules Without Splicing Restoration Alleviates RBM20 Cardiomyopathy.Circulation research · 2025Article
- Age at onset and clinical course of RBM20-mediated cardiomyopathy.Scientific reports · 2025Article
- Sex differences in diagnosis and treatment of heart failure: toward precision medicine.The Korean journal of internal medicine · 2025Review
- Article
- 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
- Arrhythmogenic Left Ventricular Cardiomyopathy: From Diagnosis to Risk Management.Journal of clinical medicine · 2024Review
- Sex as a biological variable for cardiovascular physiology.American journal of physiology. Heart and circulatory physiology · 2024Review
- Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC).ESC heart failure · 2024Observational
- Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024Review
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9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background As pathogenic variants in the gene for RBM20 appear with a frequency of 6% among Danish patients with dilated cardiomyopathy (DCM), it was the aim to investigate the associated disease expression in affected families. Methods and Results Clinical investigations were routinely performed in DCM index-patients and their relatives. In addition, ≥76 recognized and likely DCM-genes were investigated. DNA-sequence-variants within RBM20 were considered suitable for genetic testing when they fulfilled the criteria of (1) being pathogenic according to the American College of Medical Genetics and Genomics-classification, (2) appeared with an allele frequency of <1:10.000, and (3) segregated with DCM in ≥7 affected individuals. A total of 80 individuals from 15 families carried 5 different pathogenic RBM20-variants considered suitable for genetic testing. The penetrance was 66% (53/80) and age-dependent. Males were both significantly younger and had lower ejection fraction at diagnosis than females (age, 29±11 versus 48±12 years; P<0.01; ejection fraction, 29±13% versus 38±9%; P<0.01). Furthermore, 11 of 31 affected males needed a cardiac transplant while none of 22 affected females required this treatment ( P<0.001). Thirty percent of RBM20-carriers with DCM died suddenly or experienced severe ventricular arrhythmias although no adverse events were identified among healthy RBM20-carriers with a normal cardiac investigation. The event-free survival of male RBM20-carriers was significantly shorter compared with female carriers ( P<0.001). Conclusions The disease expression associated with pathogenic RBM20-variants was severe especially in males. The findings of the current study suggested that close clinical follow-up of RBM20-carriers is important which may ensure early detection of disease development and thereby improve management.
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