Evidence map›Paper›PMID 41817254›Full record

ArticleJACC. Case reports2026

Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.

Kathryn Albrecht, Tauben Averbuch, Cathleen Huculak, Julien Marcadier, Gavin Oudit, Frank K H van Landeghem, Benjamin Adam, Kristin J Lyons, Omid Kiamanesh

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Kathryn AlbrechtBroderick Cardiomyopathy Program, University of Calgary, Calgary, Alberta, Canada.
Tauben AverbuchDepartment of Cardiology, University of Toronto, Toronto, Ontario, Canada.
Cathleen HuculakDepartment of Clinical Genetics, Alberta Health Services, Calgary, Alberta, Canada.
Julien MarcadierDepartment of Clinical Genetics, Alberta Health Services, Calgary, Alberta, Canada.
Gavin OuditDepartment of Cardiology, University of Alberta, Edmonton, Alberta, Canada.
Frank K H van LandeghemDepartment of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
Benjamin AdamDepartment of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
Kristin J LyonsBroderick Cardiomyopathy Program, University of Calgary, Calgary, Alberta, Canada; Department of Cardiac Sciences, University of Calgary, Calgary, Alberta, Canada.
Omid KiamaneshBroderick Cardiomyopathy Program, University of Calgary, Calgary, Alberta, Canada; Department of Cardiac Sciences, University of Calgary, Calgary, Alberta, Canada. Electronic address: omid.kiamanesh@ucalgary.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants of dystrophin can lead to diverse phenotypes, ranging from isolated cardiomyopathy to aggressive Duchenne muscular dystrophy with progressive skeletal muscle weakness. CASE SUMMARY: We present a case of dystrophin-deficient cardiomyopathy in a 36-year-old man who presented in cardiogenic shock due to severe dilated cardiomyopathy requiring a bridge-to-transplant left ventricular assist device Genetic testing identified a DMD c.4857_4859del variant of uncertain significance. After heart transplantation, immunohistochemistry of the explanted heart revealed markedly reduced dystrophin staining, suggesting that the variant is disease-causing. Cascade testing identified multiple family members who were affected. DISCUSSION: This case report underscores the importance of synthesizing the clinical phenotype with functional testing to classify cardiomyopathy gene variants accurately. TAKE-HOME MESSAGE: Periodic review of variants of uncertain significance is critical to enable early diagnosis, treatment, and family screening.

Indexed as

cardiomyopathydystrophinopathygenetic cardiomyopathy

Identifiers

PMID41817254
PMCPMC13002500

What OpenQuestion holds

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Registered trials

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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.