Evidence map›Paper›PMID 42876936›Full record

ArticleEuropean heart journal. Case reports2026

Mitochondrial DNA depletion syndrome 12B: role of photon-counting computed tomography in detection of cardiac involvement-a case report.

Zixian Chen, Yinjia Wang, Wei Tian, Zhuoli Zhang, Gang Wang

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

Article in European heart journal. 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
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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

5 authors.

Zixian ChenThe First Clinical Medical College of Lanzhou University, Department of Radiology, The First Hospital of Lanzhou University, Intelligent Imaging Medical Engineering Research Center of Gansu Province, Accurate Image Collaborative Innovation International Science and Technology Cooperation Base of Gansu Province, Gansu Province Clinical Research Center for Radiology Imaging, No. 1, Donggang West Road, Chengguan District, Lanzhou, Gansu 73000, China.
Yinjia WangThe First Clinical Medical College of Lanzhou University, Department of Radiology, The First Hospital of Lanzhou University, Intelligent Imaging Medical Engineering Research Center of Gansu Province, Accurate Image Collaborative Innovation International Science and Technology Cooperation Base of Gansu Province, Gansu Province Clinical Research Center for Radiology Imaging, No. 1, Donggang West Road, Chengguan District, Lanzhou, Gansu 73000, China.ORCID https://orcid.org/0009-0007-9215-6991
Wei TianThe First Clinical Medical College of Lanzhou University, Department of Radiology, The First Hospital of Lanzhou University, Intelligent Imaging Medical Engineering Research Center of Gansu Province, Accurate Image Collaborative Innovation International Science and Technology Cooperation Base of Gansu Province, Gansu Province Clinical Research Center for Radiology Imaging, No. 1, Donggang West Road, Chengguan District, Lanzhou, Gansu 73000, China.
Zhuoli ZhangDepartment of Radiological Sciences, University of California, 839 Health Sciences Road, Irvine, CA 92617, USA.
Gang WangThe First Clinical Medical College of Lanzhou University, Department of Radiology, The First Hospital of Lanzhou University, Intelligent Imaging Medical Engineering Research Center of Gansu Province, Accurate Image Collaborative Innovation International Science and Technology Cooperation Base of Gansu Province, Gansu Province Clinical Research Center for Radiology Imaging, No. 1, Donggang West Road, Chengguan District, Lanzhou, Gansu 73000, China.ORCID https://orcid.org/0000-0001-9380-6406

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mitochondrial DNA depletion syndrome 12B (MDS12B) is an ultra-rare autosomal recessive disorder caused by SLC25A4 mutations, which encode the mitochondrial adenine nucleotide translocator. Hypertrophic cardiomyopathy (HCM) is the predominant manifestation, yet detailed cardiac tissue characterization remains limited. Case summary: A 28-year-old male presented with a 17-year history of exertional palpitations and progressive fatigue. Echocardiography revealed severe concentric left ventricular hypertrophy with moderately reduced ejection fraction (42%). Photon-counting computed tomography (PCCT)-a novel spectral imaging technique-provided high-resolution coronary anatomy while quantifying extracellular volume expansion, late myocardial enhancement, and microvascular obstruction (MVO). Cardiac magnetic resonance (CMR) confirmed these findings. Genetic analysis identified a previously unreported homozygous SLC25A4 frameshift mutation (c.167_170del). Conclusion: This case provided the first evidence that PCCT can non-invasively detect both myocardial fibrosis and MVO in MDS12B, offering a potential alternative to CMR when contraindicated or unavailable. The novel frameshift variant expands the genotypic spectrum of

Indexed as

CardiacCardiac magnetic resonanceCase reportMitochondrial DNA depletion syndromePhoton-counting computed tomographySLC25A4

Identifiers

PMID42876936
PMCPMC13662395

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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.