Evidence map›Paper›PMID 39465469›Full record

ReviewHeart failure reviews2025

The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.

Ioannis Vouloagkas, Andrea Agbariah, Thomas Zegkos, Thomas D Gossios, Georgios Tziomalos, Despoina Parcharidou, Matthaios Didagelos, Vasileios Kamperidis, Antonios Ziakas, Georgios K Efthimiadis

Abstract readReview
PubMed Publisher
In one paragraph

Review in Heart failure reviews, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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

10 authors.

Ioannis VouloagkasDepartment of Medicine, Cantonal Hospital of Winterthur, Winterthur, Switzerland.
Andrea AgbariahDepartment of Cardiology, Università Degli Studi Di Verona, Verona, Italy.
Thomas ZegkosCardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.
Thomas D GossiosCardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece. thomasgossios@hotmail.com.ORCID 0000-0001-6260-9813
Georgios TziomalosCardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.
Despoina ParcharidouCardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.
Matthaios Didagelos1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.
Vasileios Kamperidis1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.
Antonios Ziakas1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.
Georgios K EfthimiadisCardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The SCN5A gene encodes the alpha subunit of the cardiac sodium channel, which plays a fundamental role in the generation and propagation of the action potential in the heart muscle. During the past years our knowledge concerning the function of the cardiac sodium channel and the diseases caused by mutations of the SCN5A gene has grown. Although initially SCN5A pathogenic variants were mainly associated with channelopathies, increasing recent evidence suggests an association with structural heart disease in the form of heart muscle disease. The pathways leading to a cardiomyopathic phenotype remain unclear and require further elucidation. The aim of the present review is to provide a concise summary regarding the mechanisms through which SCN5A pathogenic variants result in heart disease, focusing in cardiomyopathy, highlighting along the way the complex role of the SCN5A gene at the intersection of cardiac excitability and contraction networks.

Indexed as

CardiomyopathiesChannelopathiesMutationNAV1.5 Voltage-Gated Sodium ChannelHumansPhenotypeNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanCardiac sodium channelCardiomyopathyChannelopathySCN5A gene

Identifiers

What OpenQuestion holds

Textmetadata
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.