Evidence map›Paper›PMID 37936622›Full record

ArticleCardiology research2023

Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual.

Elius Paz-Cruz, Viviana A Ruiz-Pozo, Santiago Cadena-Ullauri, Patricia Guevara-Ramirez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, Jose Luis Laso-Bayas, Paul Onofre-Ruiz, Nieves Domenech, Adriana Alexandra Ibarra-Rodriguez and 1 more

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cardiology research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.0field-weighted citation impact, top 12% 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

9 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
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  3. Spectrum and Clinical Interpretation ofInternational journal of molecular sciences · 2025
    Article
  4. Identification of a novelFrontiers in cardiovascular medicine · 2025
    Article
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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 4 countries.

Elius Paz-CruzCentro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.ORCID https://orcid.org/0000-0003-0062-6030
Viviana A Ruiz-PozoCentro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.ORCID https://orcid.org/0000-0001-9301-2614
Santiago Cadena-UllauriCentro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.ORCID https://orcid.org/0000-0001-8463-6046
Patricia Guevara-RamirezCentro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.ORCID https://orcid.org/0000-0002-4829-3653
Rafael Tamayo-TrujilloCentro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.ORCID https://orcid.org/0000-0001-9059-3281
Rita Ibarra-CastilloClinical Cardiac Electrophysiologist, Quito, Ecuador.ORCID https://orcid.org/0000-0001-9818-3594
Jose Luis Laso-BayasClinical Cardiac Electrophysiologist, Quito, Ecuador.
Paul Onofre-RuizFacultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.
Nieves DomenechInstituto de Investigacion Biomedica de A Coruna (INIBIC) - CIBERCV, Complexo Hospitalario Universitario de A Coruna (CHUAC), Sergas, Universidad da Coruna (UDC), Spain.ORCID https://orcid.org/0000-0002-2056-9400
Adriana Alexandra Ibarra-RodriguezGrupo de Investigacion Identificacion Genetica - IdentiGEN, FCEN, Universidad de Antioquia, Medellin, Colombia.
Ana Karina ZambranoCentro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.ORCID https://orcid.org/0000-0003-4102-3965
Universidad UTE · ECSan Diego Cardiac Center · USCentro de Investigación Biomédica en Red · ESUniversidad de Antioquia · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias. Genomic studies have provided pathogenic, likely pathogenic, and variants of uncertain significance that may predispose individuals to cardiac causes of sudden death. In this study, we describe the case of a 43-year-old individual who experienced an episode of aborted SCD. An implantable cardioverter defibrillator was placed to prevent further SCD episodes. The diagnosis was ventricular fibrillation. Genomic analysis revealed some variants in the

Indexed as

MutationsNGSSudden deathVentricular arrhythmias

Identifiers

PMID37936622
PMCPMC10627373
OpenAlexW4388271336

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.