{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:04:27Z","timestamp":1792785867209,"version":"4.5.0"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:00:00Z","timestamp":1789776000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2022YFE0209800"],"award-info":[{"award-number":["2022YFE0209800"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Gansu Provincial Health Industry Research Project","award":["GSWSKY2023-05"],"award-info":[{"award-number":["GSWSKY2023-05"]}]},{"DOI":"10.13039\/501100018554","name":"Gansu Provincial Science and Technology Program","doi-asserted-by":"publisher","award":["24JRRA310"],"award-info":[{"award-number":["24JRRA310"]}],"id":[{"id":"10.13039\/501100018554","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Lanzhou University Student Innovation and Entrepreneurship Action Plan Project","award":["20240060182"],"award-info":[{"award-number":["20240060182"]}],"id":[{"id":"https:\/\/ror.org\/01mkqqe32","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Lanzhou University Student Innovation and Entrepreneurship Action Plan Project","award":["20250060215"],"award-info":[{"award-number":["20250060215"]}],"id":[{"id":"https:\/\/ror.org\/01mkqqe32","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>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)\u2014a novel spectral imaging technique\u2014provided 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).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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 SLC25A4-related mitochondrial depletion syndromes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytag709","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:25:09Z","timestamp":1789755909000},"source":"Crossref","is-referenced-by-count":0,"title":["Mitochondrial DNA depletion syndrome 12B: role of photon-counting computed tomography in detection of cardiac involvement\u2014a case report"],"prefix":"10.1093","volume":"10","author":[{"given":"Zixian","family":"Chen","sequence":"first","affiliation":[{"name":"The 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 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9215-6991","authenticated-orcid":false,"given":"Yinjia","family":"Wang","sequence":"additional","affiliation":[{"name":"The 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 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Tian","sequence":"additional","affiliation":[{"name":"The 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 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuoli","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences, University of California, 839 Health Sciences Road, Irvine, CA 92617 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9380-6406","authenticated-orcid":false,"given":"Gang","family":"Wang","sequence":"additional","affiliation":[{"name":"The 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 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,9,19]]},"reference":[{"key":"2026101404002048900_ytag709-B1","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000339","article-title":"Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy","volume":"5","author":"Quadir","year":"2019","journal-title":"Neurol Genet"},{"key":"2026101404002048900_ytag709-B2","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijcard.2024.132440","article-title":"Magnetic resonance mapping for the assessment of cardiomyopathies and myocardial disease","volume":"415","author":"Gravina","year":"2024","journal-title":"Int J Cardiol"},{"key":"2026101404002048900_ytag709-B3","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.mito.2017.08.009","article-title":"Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations","volume":"39","author":"Tosserams","year":"2018","journal-title":"Mitochondrion"},{"key":"2026101404002048900_ytag709-B4","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/S0960-8966(01)00248-6","article-title":"Hypertrophic cardiomyopathy and mtDNA depletion. 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