Evidence map›Paper›PMID 40115818›Full record

ArticleFrontiers in genetics2025

Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous

Ryotaro Hashizume, Hiroshi Imai, Hiroyuki Ohashi, Hirofumi Sawada, Noriko Yodoya, Ryuji Okamoto, Kaoru Dohi, Chika Kasai, Takahito Kitajima, Takumi Fujiwara and 8 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. 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. 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

18 authors.

Ryotaro HashizumeDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Hiroshi ImaiDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Hiroyuki OhashiDepartment of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Hirofumi SawadaDepartment of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Noriko YodoyaDepartment of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Ryuji OkamotoDepartment of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Kaoru DohiDepartment of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Chika KasaiDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Takahito KitajimaDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Takumi FujiwaraDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Ikuyo MochikiDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Kaname NakataniDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Sachiko WakitaDepartment of Pathology and Matrix Biology, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Seiko OhnoMedical Genome Center, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
Koichi KatoDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan.
Yoshinaga OkugawaDepartment of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
Yoshihide MitaniDepartment of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Masahiro HirayamaDepartment of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disorder characterized by progressive fibrofatty replacement of the myocardium. In the Japanese population, variants of the desmoglein-2 ( Case Presentation: A 6-year-old asymptomatic girl was diagnosed with ACM based on abnormal electrocardiogram findings, including epsilon waves, and T-wave inversions in leads V Discussion: This case illustrates the potential for severe pediatric ACM associated with compound heterozygous Conclusion: This case underscores the genetic heterogeneity and phenotypic variability in inherited cardiomyopathies. It emphasizes the importance of comprehensive genetic testing and close monitoring of affected individuals and their families.

Indexed as

arrhythmogenic cardiomyopathycase reportclinical symptomscompound heterozygousDSG2geneticsMYBPC3

Identifiers

PMID40115818
PMCPMC11922858

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