Evidence map›Paper›PMID 39484323›Full record

ArticleJACC. Case reports2024

Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype.

Enrique C Guerra, Kerstin Beutelspacher-Fernandez, Jorge A Silva-Estrada, Maria Jose Santa-Ana-Bayona, Pavel Martinez-Dominguez, Cristina P Agredano-Chavez, Miguel Angel Pardiño-Vega, Ana Lucia Yanez-Felix, Emiy Yokoyama-Rebollar, Nilda Espinola-Zavaleta

Abstract readCase Reports
In one paragraph

Article in JACC. Case reports, 2024. 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
–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

1 citing paper in PubMed.

  1. Focusing in on the Danon Disease Heart.JACC. Case reports · 2024
    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

10 authors.

Enrique C GuerraDepartment of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.
Kerstin Beutelspacher-FernandezDepartment of Human Genetics, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Jorge A Silva-EstradaDepartment of Pediatric Cardiology, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Maria Jose Santa-Ana-BayonaDepartment of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.
Pavel Martinez-DominguezDepartment of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.
Cristina P Agredano-ChavezDepartment of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.
Miguel Angel Pardiño-VegaDepartment of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.
Ana Lucia Yanez-FelixDepartment of Human Genetics, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Emiy Yokoyama-RebollarDepartment of Human Genetics, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Nilda Espinola-ZavaletaDepartment of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This paper presents the case of a 14-year-old boy with Danon disease exhibiting exclusive cardiac involvement, initially suspected as hypertrophic cardiomyopathy. Significant deterioration raised suspicion of an alternative etiology. A clinical exome revealed a previously unreported likely pathogenic variant,

Indexed as

cardiomyopathyDanon diseasegenetic variantLAMP2

Identifiers

PMID39484323
PMCPMC11522808

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.