Evidence map›Paper›PMID 37443825›Full record

ReviewCells2023

Genetic and Molecular Mechanisms in Brugada Syndrome.

Errol Moras, Kruti Gandhi, Bharat Narasimhan, Ramon Brugada, Josep Brugada, Pedro Brugada, Chayakrit Krittanawong

Abstract readReview
In one paragraph

Review in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Identification of a NovelMedical research archives · 2024
    Article
  7. Review
  8. Review
  9. Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.International journal of molecular sciences · 2024
    Review
  10. Brugada syndrome update.Frontiers in physiology · 2024
    Review
  11. 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

7 authors.

Errol MorasDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-5677-7391
Kruti GandhiDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-7551-4944
Bharat NarasimhanDebakey Cardiovascular Institute, Houston Methodist Hospital, Houston, TX 77030, USA.
Ramon BrugadaCardiology, Cardiac Genetics Clinical Unit, Hospital Universitari Josep Trueta, Hospital Santa Caterina, 17007 Girona, Spain.
Josep BrugadaCardiovascular Institute, Hospital Clínic, 08036 Barcelona, Spain.
Pedro BrugadaCardiovascular Division, Free University of Brussels (UZ Brussel) VUB, B-1050 Brussels, Belgium.
Chayakrit KrittanawongCardiology Division, NYU Langone Health and NYU School of Medicine, New York, NY 10016, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Brugada syndrome is a rare hereditary arrhythmia disorder characterized by a distinctive electrocardiogram pattern and an elevated risk of ventricular arrhythmias and sudden cardiac death in young adults. Despite recent advances, it remains a complex condition, encompassing mechanisms, genetics, diagnosis, arrhythmia risk stratification, and management. The underlying electrophysiological mechanism of Brugada syndrome requires further investigation, with current theories focusing on abnormalities in repolarization, depolarization, and current-load match. The genetic basis of the syndrome is strong, with mutations found in genes encoding subunits of cardiac sodium, potassium, and calcium channels, as well as genes involved in channel trafficking and regulation. While the initial discovery of mutations in the SCN5A gene provided valuable insights, Brugada syndrome is now recognized as a multifactorial disease influenced by several loci and environmental factors, challenging the traditional autosomal dominant inheritance model. This comprehensive review aims to provide a current understanding of Brugada syndrome, focusing on its pathophysiology, genetic mechanisms, and novel models of risk stratification. Advancements in these areas hold the potential to facilitate earlier diagnosis, improve risk assessments, and enable more targeted therapeutic interventions.

Indexed as

Brugada SyndromeDeath, Sudden, CardiacElectrocardiographyHumansMutationRisk AssessmentBrugadaBrugada syndromegenesgenetic

Identifiers

PMID37443825
PMCPMC10340412

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Registered trials

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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.