Evidence map›Paper›PMID 39980788›Full record

ArticleEuropean heart journal supplements : journal of the European Society of Cardiology2025

Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?

Andrea Mazzanti, Deni Kukavica, Alessandro Trancuccio, Gabriele G Scilabra, Lucia Coppini, Valerio Pergola, Erika Tempo, Gianluca Pili, Carlo Napolitano, Silvia G Priori

Erratum issuedAbstract read
In one paragraph

Article in European heart journal supplements : journal of the European Society of Cardiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Review
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  4. Review
  5. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  6. Article
  7. Article
  8. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Andrea MazzantiMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0000-0002-0208-2172
Deni KukavicaMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0000-0002-7152-5934
Alessandro TrancuccioMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0000-0002-2181-8245
Gabriele G ScilabraMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.
Lucia CoppiniMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.
Valerio PergolaMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0009-0006-6688-8454
Erika TempoMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.
Gianluca PiliMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0000-0002-3748-3734
Carlo NapolitanoMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0000-0002-7643-4628
Silvia G PrioriMolecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Via Maugeri 10, 27100 Pavia, Italy.ORCID https://orcid.org/0000-0001-6877-0288

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Advances in understanding the genetic architecture and novel imaging techniques have profoundly impacted research on arrhythmogenic right ventricular cardiomyopathy (ARVC). As knowledge of ARVC has evolved, so has its classification: originally termed "arrhythmogenic right ventricular dysplasia", it was later broadened to "arrhythmogenic cardiomyopathy" (ACM) to include left ventricular forms. However, the 2023 European Society of Cardiology guidelines advocate reintroducing ARVC for fibro-fatty right ventricular disease and adopting "non-dilated left ventricular cardiomyopathy" for left-sided phenotypes previously labelled as ACM variants. Genetic testing has become critical in ARVC diagnosis, particularly for identifying mutations in desmosomal genes (e.g.,

Indexed as

Arrhythmogenic cardiomyopathyGene therapyGeneticsSudden cardiac death

Identifiers

PMID39980788
PMCPMC11836680

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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.