Evidence map›Paper›PMID 34946838›Full record

Observational studyGenes2021

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a

Yolanda Rico, Maria Francisca Ramis, Montse Massot, Laura Torres-Juan, Jaume Pons, Elena Fortuny, Tomas Ripoll-Vera, Rosa González, Vicente Peral, Xavier Rossello and 1 more

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in Genes, 2021. 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
0.6field-weighted citation impact, top 28% 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, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. Identification ofDiagnostics (Basel, Switzerland) · 2023
    Article
  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

11 authors at 4 institutions in 2 countries.

Yolanda RicoCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Maria Francisca RamisCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Montse MassotCentre Hospitalier Universitaire de Toulouse, Hôpital de Rangueil, 31400 Toulouse, France.
Laura Torres-JuanHealth Research Institute of the Balearic Islands (IdISBa), 07120 Palma, Spain.ORCID 0000-0002-8739-6081
Jaume PonsCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Elena FortunyCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Tomas Ripoll-VeraHealth Research Institute of the Balearic Islands (IdISBa), 07120 Palma, Spain.ORCID 0000-0001-9222-325X
Rosa GonzálezCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Vicente PeralCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Xavier RosselloCardiology Department, Hospital Universitari Son Espases, 07120 Palma, Spain.
Damià Heine SuñerHealth Research Institute of the Balearic Islands (IdISBa), 07120 Palma, Spain.ORCID 0000-0001-9374-1219
Health Research Institute of the Balearic Islands · ESHospital Universitario Son Espases · ESCentre Hospitalier Universitaire de Toulouse · FRHospital Son Llatzer · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20-35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the

Indexed as

Cardiomyopathy, DilatedDeath, Sudden, CardiacFemaleGenetic Predisposition to DiseaseGenetic TestingHeterozygoteHumansMaleMiddle AgedMutationNAV1.5 Voltage-Gated Sodium ChannelPedigreePhenotypeRetrospective StudiesNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humandilated cardiomyopathyfamilial dilated cardiomyopathygenetic studynovel mutationSCN5A

Identifiers

PMID34946838
PMCPMC8701882
OpenAlexW3217102739

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.