Evidence map›Paper›PMID 40125570›Full record

ArticleJournal of cardiovascular electrophysiology2025

Clinical Features of Brugada Syndrome Patients With SCN5A Variants.

Sho Okamura, Hidenori Ochi, Mika Nakashima, Rie Akiyama, Takehito Tokuyama, Yousaku Okubo, Shunsuke Miyauchi, Shogo Miyamoto, Naoto Oguri, Yukimi Uotani and 4 more

Abstract read
In one paragraph

Article in Journal of cardiovascular electrophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Sho OkamuraDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.ORCID 0000-0002-9512-9506
Hidenori OchiDepartment of Health Management, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan.
Mika NakashimaDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Rie AkiyamaDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Takehito TokuyamaDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.ORCID 0000-0003-2722-6934
Yousaku OkuboDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Shunsuke MiyauchiDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.ORCID 0000-0001-5781-3182
Shogo MiyamotoDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.ORCID 0009-0002-4294-2488
Naoto OguriDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.ORCID 0000-0002-3345-4274
Yukimi UotaniDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Takumi SakaiDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Motoki FurutaniDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Yasuki KiharaDepartment of Cardiovascular Medicine, Kobe City Medical Center General Hospital, Kobe, Japan.
Yukiko NakanoDepartment of Cardiovascular Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.ORCID 0000-0001-5373-5164

Funding

This study was funded by The Japan Society for the Promotion of Science (Grant number: 17K09501).
6 · The paper itself

Abstract

backgroundSCN5A is the most common susceptibility gene in patients with Brugada syndrome (BrS); however, the interpretation and management of benign or variants of unknown clinical significance (VUS) in SCN5A remains a challenge despite the availability of genetic testing.

objectiveThis study aimed to investigate the relationship between the SCN5A variants and clinical symptoms of BrS patients.

methodsWe resequenced the SCN5A gene in 239 patients diagnosed with BrS at Hiroshima University Hospital and analyzed the association between the SCN5A variants and clinical features, 12-lead electrocardiography (ECG) parameters, and signal-averaged ECG.

resultsOverall, 84 SCN5A variants were identified: 55 benign, 7 pathogenic, and 22 VUS. No significant difference in the incidence of previous cardiac events was observed between patients with and without SCA5A benign variants. The female proportion was higher in BrS patients with SCN5A VUS or pathogenic variants. Moreover, the symptomatic proportion was higher in BrS patients with SCN5A VUS or pathogenic variants than in those without SCN5A variants. Multivariate analyses revealed that the presence of SCN5A pathogenic variants, longer r-J intervals in lead V1, and the presence of fragmented QRS were independently associated with cardiac events in BrS patients, and that positive late potentials, longer LAS40, and lower RMS40 were significantly associated with symptomatic BrS in patients carrying SCN5A VUS.

conclusionsSCN5A pathogenic variants were found to be independent risk factors for cardiac events in BrS patients. Although SCN5A VUS was not an independent risk factor for cardiac events, proportion of symptomatic patients was higher in BrS patients with SCN5A VUS than in those without SCN5A variants. In BrS patients with SCN5A VUS, the signal-averaged ECG was the key to the risk stratification for cardiac events.

Indexed as

Brugada SyndromeHeart RateNAV1.5 Voltage-Gated Sodium ChannelAction PotentialsAdultAgedElectrocardiographyFemaleGenetic Predisposition to DiseaseHumansJapanMaleMiddle AgedPhenotypePredictive Value of TestsRisk AssessmentNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanBrugada syndromecardiac eventlate potentialSCN5A variantsignal‐averaged ECG

Identifiers

PMID40125570
PMCPMC12160668

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.