Evidence map›Paper›PMID 40155426›Full record

ArticleScientific reports2025

Age at onset and clinical course of RBM20-mediated cardiomyopathy.

Ramin Garmany, Matteo Castrichini, Raquel Neves, Naveen L Pereira, Ciorsti MacIntyre, Jay W Schneider, Michael J Ackerman, John R Giudicessi

Abstract read
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Ramin GarmanyMayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic Alix School of Medicine and the Mayo Clinic Medical Scientist Training Program, Rochester, MN, USA.
Matteo CastrichiniDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
Raquel NevesDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
Naveen L PereiraDepartment of Cardiovascular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Ciorsti MacIntyreDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
Jay W SchneiderDepartment of Cardiovascular Medicine, Mayo Clinic, Jacksonville, FL, USA.
Michael J AckermanDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
John R GiudicessiDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA. Giudicessi.john@mayo.edu.

Funding

Medical Scientist Traning Program at Mayo ClinicT32GM065841 · NIGMS · MAYO CLINIC ROCHESTER · PI KAUFMANN, SCOTT H, SCHIMMENTI, LISA A · 2003 to 2022
$5.8M
NIGMS NIH HHS T32 GM065841
6 · The paper itself

Abstract

Disease-causative variants in RBM20-encoded RNA-binding motif protein 20 cause a severe arrhythmogenic dilated cardiomyopathy (DCM). We aimed to characterize the clinical course of RBM20-mediated DCM in comparison to other familial and non-familial forms of DCM. The Mayo Clinic Genetic Arrhythmogenic Cardiomyopathy (ACM) Registry was used to identify RBM20- and TTNtv-positive individuals. Additionally, patients with idiopathic non-ischemic DCM were included in this study. Ventricular arrhythmic (VA) events were defined as sustained ventricular arrhythmia, sudden cardiac arrest (SCA), or ventricular tachycardia (VT)/ventricular fibrillation (VF)-terminating implantable cardioverter defibrillator (ICD) therapy and advanced heart failure (AHF) events defined as ventricular assist device implantation or heart transplantation. Overall, we identified 43 RBM20- (49% female) and 108 TTNtv- positive individuals (44% female). RBM20 variant-positive individuals were younger at time of diagnosis at 31 years vs. 45 years old for TTNtv-positive individuals (p < 0.0001). Additionally, RBM20 variant-positive individuals were more likely to have a family history of SCA (67% vs. 30%; p < 0.0001) and cardiomyopathy (88% vs. 61%; p = 0.0008). Interestingly, the prevalence of AHF (14% vs. 5%) events was higher in RBM20 variant-positive patients. RBM20 variant-positive individuals had earlier times to both VA (p = 0.007) and AHF (p = 0.0008) events. Findings were similar in comparison to idiopathic DCM. In this single center study, RBM20 patients had an earlier progressing disease with a higher prevalence of advanced heart failure compared with TTNtv patients. RBM20 patients progressed to VA and AHF endpoints earlier.

Indexed as

Cardiomyopathy, DilatedRNA-Binding ProteinsAdultAgedAge of OnsetFemaleHumansMaleMiddle Agedribonucleic acid binding motif protein 20, humanRNA-Binding ProteinsArrhythmogenic cardiomyopathyDilated cardiomyopathyGenotypeHeart failureRBM20TTN

Identifiers

PMID40155426
PMCPMC11953230

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Registered trials

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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.