Evidence map›Paper›PMID 32549272›Full record

ReviewJournal of clinical medicine2020

Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation.

Oscar Campuzano, Georgia Sarquella-Brugada, Elena Arbelo, Sergi Cesar, Paloma Jordà, Alexandra Pérez-Serra, Rocío Toro, Josep Brugada, Ramon Brugada

Abstract readReview
In one paragraph

Review in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Review
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

9 authors.

Oscar CampuzanoCardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain.ORCID 0000-0001-5298-5276
Georgia Sarquella-BrugadaMedical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.ORCID 0000-0002-6857-8904
Elena ArbeloCentro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.
Sergi CesarArrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, 08950 Barcelona, Spain.ORCID 0000-0002-2798-1756
Paloma JordàArrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036 Barcelona, Spain.
Alexandra Pérez-SerraCardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain.
Rocío ToroMedicine Department, School of Medicine, 11003 Cadiz, Spain.ORCID 0000-0003-3136-1776
Josep BrugadaCentro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.
Ramon BrugadaCardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain.

Funding

Fundació Privada Daniel Bravo Andreu FDBA2015Instituto de Salud Carlos III FIS PI17/01690"la Caixa" Foundation LCF/PR/GN16/50290001"la Caixa" Foundation LCF/PR/GN19/50320002
6 · The paper itself

Abstract

Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac episodes in young people. It is possible that the first sign of the condition may be sudden death. Inherited arrhythmogenic syndromes are caused by genetic defects that may be analyzed using different technical approaches. A genetic alteration may be used as a marker of risk for families who carry the genetic alterations. Therefore, the early identification of the responsible genetic defect may help the adoption of preventive therapeutic measures focused on reducing the risk of lethal arrhythmias. Here, we describe the use of massive sequencing technologies and the interpretation of genetic analyses in inherited arrhythmogenic syndromes.

Indexed as

arrhythmiasgenetic diagnosisnext-generation sequencingsudden cardiac death

Identifiers

PMID32549272
PMCPMC7356862

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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.