Evidence map›Paper›PMID 36292641›Full record

ReviewGenes2022

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

Chiara Di Resta, Jan Berg, Andrea Villatore, Marianna Maia, Gianluca Pili, Francesco Fioravanti, Rossella Tomaiuolo, Simone Sala, Sara Benedetti, Giovanni Peretto

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06376552 (The Use of Artificial Intelligence for the Prioritization of Causative Genetic Background in a Brugada Syndrome Cohort), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 23% of its field
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.

NCT06376552 completednot on this map

The Use of Artificial Intelligence for the Prioritization of Causative Genetic Background in a Brugada Syndrome Cohort: an Observational Retrospective Study

TypeobservationalSponsorIRCCS San RaffaeleRan2018 to 2022Enrolled200ConditionsBrugada Syndrome
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Functional Characterisation of the RareInternational journal of molecular sciences · 2023
    Article
  5. Review
  6. 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 at 2 institutions in 1 country.

Chiara Di RestaGenomic Unit for the Diagnosis of Human Pathologies, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0003-2880-6631
Jan BergDepartment of Cardiac Electrophysiology and Arrhythmology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Andrea VillatoreSchool of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy.ORCID 0000-0002-2858-1404
Marianna MaiaSchool of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy.ORCID 0000-0002-4282-7095
Gianluca PiliSchool of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Francesco FioravantiDepartment of Cardiac Electrophysiology and Arrhythmology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Rossella TomaiuoloSchool of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy.ORCID 0000-0002-2828-782X
Simone SalaDepartment of Cardiac Electrophysiology and Arrhythmology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0003-3303-8892
Sara BenedettiUOC Screening Neonatale e Malattie Metaboliche, ASST Fatebenefratelli Sacco Ospedale dei Bambini "Vittore Buzzi", 20157 Milan, Italy.
Giovanni PerettoSchool of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy.ORCID 0000-0003-1815-4000
Vita-Salute San Raffaele University · ITOspedale dei Bambini Vittore Buzzi · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Brugada syndrome (BrS) is an inherited autosomal dominant genetic disorder responsible for sudden cardiac death from malignant ventricular arrhythmia. The term "channelopathy" is nowadays used to classify BrS as a purely electrical disease, mainly occurring secondarily to loss-of-function mutations in the α subunit of the cardiac sodium channel protein Nav1.5. In this setting, arrhythmic manifestations of the disease have been reported in the absence of any apparent structural heart disease or cardiomyopathy. Over the last few years, however, a consistent amount of evidence has grown in support of myocardial structural and functional abnormalities in patients with BrS. In detail, abnormal ventricular dimensions, either systolic or diastolic dysfunctions, regional wall motion abnormalities, myocardial fibrosis, and active inflammatory foci have been frequently described, pointing to alternative mechanisms of arrhythmogenesis which challenge the definition of channelopathy. The present review aims to depict the status of the art of concealed arrhythmogenic substrates in BrS, often resulting from an advanced and multimodal diagnostic workup, to foster future preclinical and clinical research in support of the cardiomyopathic nature of the disease.

Indexed as

Brugada SyndromeCardiomyopathiesArrhythmias, CardiacDeath, Sudden, CardiacHumansSodium ChannelsSodium ChannelsBrugada syndromecardiomyopathyfibrosisgeneticsinflammationsubstratesudden cardiac deathventricular arrhythmia

Identifiers

PMID36292641
PMCPMC9602309
OpenAlexW4297522409

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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.