Evidence map›Paper›PMID 42074488›Full record

ReviewGenes2026

High-Risk Cardiomyopathy Genotypes and Arrhythmic Risk: LMNA, FLNC, RBM20, PLN and Desmosomal Genes in the ESC 2023 Era.

Nardi Tetaj, Andrea Segreti, Aurora Ferro, Virginia Ligorio, Alberto Spagnolo, Francesco Grigioni

Abstract readReview
In one paragraph

Review in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

6 authors.

Nardi TetajCardiology Unit, Campus Bio-Medico Hospital University, Via Alvaro del Portillo 200, 00128 Roma, Italy.ORCID 0000-0002-2906-4855
Andrea SegretiCardiology Unit, Campus Bio-Medico Hospital University, Via Alvaro del Portillo 200, 00128 Roma, Italy.ORCID 0000-0003-2631-8642
Aurora FerroCardiology Unit, Campus Bio-Medico Hospital University, Via Alvaro del Portillo 200, 00128 Roma, Italy.
Virginia LigorioCardiology Unit, Campus Bio-Medico Hospital University, Via Alvaro del Portillo 200, 00128 Roma, Italy.
Alberto SpagnoloCardiology Unit, Campus Bio-Medico Hospital University, Via Alvaro del Portillo 200, 00128 Roma, Italy.
Francesco GrigioniCardiology Unit, Campus Bio-Medico Hospital University, Via Alvaro del Portillo 200, 00128 Roma, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited cardiomyopathies represent a major cause of ventricular arrhythmias (VA) and sudden cardiac death (SCD), frequently occurring in the absence of advanced systolic dysfunction. Traditional strategies for the primary prevention of SCD have relied predominantly on left ventricular ejection fraction (LVEF), an approach that fails to capture the substantial biological and clinical heterogeneity of non-ischemic cardiomyopathies. Over the past decade, advances in cardiac genetics and cardiac magnetic resonance imaging have identified specific genotypes associated with a disproportionate arrhythmic risk, which often precedes overt ventricular remodeling. The 2023 European Society of Cardiology (ESC) Guidelines on cardiomyopathies formalize this paradigm shift by integrating etiology, myocardial substrate, and electrical phenotype into contemporary risk stratification. In this narrative review, we focus on cardiomyopathy-associated genotypes consistently linked to high arrhythmic risk-LMNA, truncating variants in FLNC, RBM20, PLN p.Arg14del, and desmosomal genes-and examine their molecular mechanisms, phenotypic trajectories, and arrhythmogenic profiles. We discuss how genotype-specific patterns of myocardial fibrosis, conduction disease, and VA inform implantable cardioverter-defibrillator (ICD) decision-making beyond LVEF-based thresholds. By synthesizing genetic, imaging, and clinical evidence in light of ESC 2023 recommendations, this review highlights the evolving role of genotype-informed strategies in the personalized prevention of SCD and underscores remaining gaps in evidence and risk prediction.

Indexed as

Arrhythmias, CardiacCardiomyopathiesDeath, Sudden, CardiacDesmosomesGenetic Predisposition to DiseaseGenotypeHumansLamin Type ARNA-Binding ProteinsLamin Type ALMNA protein, humanribonucleic acid binding motif protein 20, humanRNA-Binding Proteinscardiac MRIcardiomyopathydesmoplakindesmosomal genesFLNCgenotype–phenotypeICDlate gadolinium enhancementLMNAPLNRBM20sudden cardiac deathventricular arrhythmias

Identifiers

PMID42074488
PMCPMC13116171

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.