Evidence map›Paper›PMID 40846385›Full record

ArticleJACC. Case reports2025

Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.

Emilie Théberge, Jillianne Code, John K Khoo, Chi Lai, Andrew Ignaszewski, Sean Virani, Mustafa Toma, Thomas M Roston, Tara Sedlak, Anna Lehman

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

Article in JACC. Case reports, 2025. 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

10 authors.

Emilie ThébergeFaculty of Medicine, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Jillianne CodeFaculty of Education, Department of Curriculum and Pedagogy, University of British Columbia, Vancouver, Canada; HeartLife Foundation of Canada, Vancouver, Canada.
John K KhooDepartment of Radiology, University of British Columbia, Vancouver, Canada.
Chi LaiFaculty of Medicine, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
Andrew IgnaszewskiDivision of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Sean ViraniDivision of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Mustafa TomaDivision of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Thomas M RostonDivision of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Tara SedlakDivision of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Anna LehmanFaculty of Medicine, Department of Medical Genetics, University of British Columbia, Vancouver, Canada. Electronic address: anna.lehman@vch.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNonischemic cardiomyopathy (NICM) can be caused by single-gene mutations, including genes such as inorganic pyrophosphatase 2 (PPA2) with multisystem effects. CASE SUMMARY: A 28-year-old woman presenting with respiratory symptoms was discharged with a diagnosis of decompensated idiopathic NICM. Her NICM progressively worsened, and the patient underwent a heart transplant at the age of 38 and again at the age of 42. At age 47, genetic testing confirmed 2 mutations in the PPA2 gene that had caused her NICM. DISCUSSION: This patient is to our knowledge the oldest published to date (48 years) presenting with cardiac symptoms who has PPA2 deficiency, a mitochondrial disease characterized by sudden cardiac death in infancy. TAKE-HOME MESSAGE: This case exemplifies the utility of employing genetic testing early in the diagnostic workup of NICM before applying the designation "idiopathic."

Indexed as

cardiomyopathymitochondrial diseasemonogenicPPA2

Identifiers

PMID40846385
PMCPMC12371351

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