Mitochondrial DNA Depletion Syndrome 12B: Role of Photon-Counting CT in Detection of Cardiac Involvement—A case report

Clicks: 10
ID: 329188
2026
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #352 of 407 articles by views in European Heart Journal - Case Reports

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 407 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
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 17-year history of exertional palpitations and progressive fatigue. Echocardiography revealed severe concentric left ventricular hypertrophy with moderately reduced ejection fraction (42%). Photon-counting CT (PCCT) -a novel spectral imaging technique-provided high-resolution coronary anatomy while simultaneously 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 provides 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 SLC25A4-related mitochondrial depletion syndromes.
Reference Key
openalex_W7213651309 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Zixian Chen, Yinjia Wang, Wei Tian, Zhuoli Zhang, Gang Wang
Are you one of these authors? Claim your profile
Journal European Heart Journal - Case Reports
Year 2026
DOI
10.1093/ehjcr/ytag709
URL
https://doi.org/10.1093/ehjcr/ytag709
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.