Evidence map›Paper›PMID 31156706›Full record

ArticleFrontiers in genetics2019

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias and 12 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2019. 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
0.8field-weighted citation impact, top 25% 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.

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, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. 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

22 authors at 6 institutions in 1 country.

Oscar CampuzanoCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Anna Fernandez-FalguerasCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Georgia Sarquella-BrugadaDepartment of Medical Science, School of Medicine, University of Girona, Girona, Spain.
Sergi CesarArrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Elena ArbeloCentro Investigación Biomédica Red Enfermedades Cardiovasculares, Madrid, Spain.
Ana García-ÁlvarezArrhythmias Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain.
Paloma JordàArrhythmias Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain.
Monica CollCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Victoria FiolArrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Anna IglesiasCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Alexandra Perez-SerraCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Jesus MatesCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Bernat Del OlmoCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Carles FerrerCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Mireia AlcaldeCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Marta PuigmuléCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Irene Mademont-SolerCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Ferran PicoCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Laura LopezCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
Coloma TironCardiology Service, Hospital Josep Trueta, University of Girona, Girona, Spain.
Josep BrugadaCentro Investigación Biomédica Red Enfermedades Cardiovasculares, Madrid, Spain.
Ramon BrugadaCardiovascular Genetics Center, Biomedical Research Institute of Girona, University of Girona, Girona, Spain.
University of Girona · ESInstitut d'Investigació Biomèdica de Girona · ESHospital Sant Joan de Déu Barcelona · ESUniversitat de Barcelona · ESCentro de Investigación Biomédica en Red · ESHospital Universitari de Girona Doctor Josep Trueta · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive genetic analysis to unravel the cause of disease. However, most identified genetic variants remain of unknown clinical significance due to incomplete penetrance and variable expressivity. Therefore, genetic interpretation of variants and translation into clinical practice remain a current challenge. We performed retrospective comprehensive clinical assessment and genetic analysis in six families, four diagnosed with arrhythmogenic cardiomyopathy, and two diagnosed with hypertrophic cardiomyopathy (HCM). Genetic testing identified three rare variants (two non-sense and one small indel inducing a frameshift), each present in two families. Although each variant is currently classified as pathogenic and the cause of the diagnosed cardiomyopathy, the onset and/or clinical course differed in each patient. New genetic technology allows comprehensive yet cost-effective genetic analysis, although genetic interpretation, and clinical translation of identified variants should be carefully done in each family in a personalized manner.

Indexed as

arrhythmiascardiomyopathiesgenetic counselinggeneticssudden cardiac death

Identifiers

PMID31156706
PMCPMC6529573
OpenAlexW2946714351

What OpenQuestion holds

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LicenceCC BY
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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.