Evidence map›Paper›PMID 37510372›Full record

Observational studyGenes2023

The Novel Variant NP_00454563.2 (

Ainhoa Robles-Mezcua, Amalio Ruíz-Salas, Carmen Medina-Palomo, María Robles-Mezcua, Arancha Díaz-Expósito, María Victoria Ortega-Jiménez, Juan Ramón Gimeno-Blanes, Manuel F Jiménez-Navarro, José Manuel García-Pinilla

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

Observational study in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 34% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

9 authors at 2 institutions in 1 country.

Ainhoa Robles-MezcuaHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.ORCID 0000-0001-6212-9959
Amalio Ruíz-SalasHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
Carmen Medina-PalomoHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
María Robles-MezcuaHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
Arancha Díaz-ExpósitoHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.ORCID 0000-0002-0007-3248
María Victoria Ortega-JiménezPathological Anatomy Service, IBIMA, 29590 Málaga, Spain.
Juan Ramón Gimeno-BlanesCentro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, 28220 Madrid, Spain.
Manuel F Jiménez-NavarroHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.ORCID 0000-0002-6759-0514
José Manuel García-PinillaHeart Failure and Familial Cardiomyopathies Unit, Cardiology Department, University Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
Instituto de Salud Carlos III · ESInstituto de Investigación Biomédica de Málaga · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

INTRODUCTION AND

objectivesArrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death, or even give rise to heart failure (HF). Sudden death is frequently the first manifestation of the disease, particularly among young patients. The aim of this study is to describe a new pathogenic variant in the

methodsA descriptive observational study that included eight initially non-interrelated families with a diagnosis of ACM undergoing follow-up at our HF and Familial Cardiomyopathies Unit, who were carriers of the NM_004572.3:c.775_776insG;

resultsWe included 47 subjects, of whom 8 were index cases (17%). Among the evaluated family members, 16 (34%) were carriers of the genetic variant, 3 of whom also had a diagnosis of ACM. The majority were women (26 patients; 55.3%), with a mean age on diagnosis of 48.9 ± 18.6 years and a median follow-up of 39 [24-59] months. Worthy of note are the high incidences of arrhythmic events as the form of presentation and in follow-up (21.5% and 20.9%, respectively), and the onset of HF in 25% of the sample. The most frequent ventricular involvements were right (four patients, 16.7%) and biventricular (four patients, 16.7%); we found no statistical differences in any of the variables analysed.

conclusionsThis variant is a pathogenic variant of gene

Indexed as

Arrhythmogenic Right Ventricular DysplasiaCardiomyopathiesHeart FailureFemaleGenetic TestingHeterozygoteHumansMalePlakophilinsSpainPKP2 protein, humanPlakophilinsarrhythmic eventsarrhythmogenic cardiomyopathygenetic variantheart failurePKP2

Identifiers

PMID37510372
PMCPMC10379208
OpenAlexW4384933727

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.