{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T21:26:37Z","timestamp":1793741197644,"version":"4.6.1"},"reference-count":26,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T00:00:00Z","timestamp":1780531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Desmin-related cardiomyopathy is a rare disorder caused by pathogenic variants in desmin and associated protein genes. We aimed to describe the clinical, histopathological, immunohistochemical, ultrastructural, and molecular features in a pediatric cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>This retrospective descriptive study reviewed pediatric cases diagnosed over a 30-year period. Clinical data were extracted from electronic medical records. Archived histologic slides (H&amp;E, desmin immunostains, and special stains) and electron photomicrographs were re-evaluated. Key features were documented and summarized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Four pediatric patients (3 males and 1 female) presented between ages 2 and 14\u2009years with restrictive cardiomyopathy and conduction abnormalities. Endomyocardial biopsies and\/or explanted heart specimens showed eosinophilic cytoplasmic inclusions that were desmin-immunoreactive, PAS-negative, and highlighted by toluidine blue. Electron microscopy revealed dense cytoplasmic granulofilamentous aggregates that were frequently continuous with the sarcoplasmic membrane, Z-bands, and intercalated discs. Two patients harbored the same pathogenic variant: DES c.1360T&gt;C (p.Arg454Trp).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Desmin-related cardiomyopathy should be considered in any child presenting with restrictive cardiomyopathy and\/or rhythm disturbances. Distinctive light microscopic and ultrastructural features can aid in confirming the diagnosis. Certain pathogenic variants are increasingly linked to more severe phenotypes, highlighting the importance of genetic evaluation and its implications for family counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10935266261447326","type":"journal-article","created":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T12:37:48Z","timestamp":1780576668000},"page":"620-630","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Childhood-Onset Desmin-Related Cardiomyopathy: Comprehensive Clinical, Histopathological, Immunohistochemical, Ultrastructural, and Molecular Characterization"],"prefix":"10.1177","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2152-7998","authenticated-orcid":false,"given":"Chrystalle Katte","family":"Carreon","sequence":"first","affiliation":[{"name":"Department of Pathology, Boston Children\u2019s Hospital and Harvard Medical School, MA, USA"},{"name":"The Stella and Richard Van Praagh Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children\u2019s Hospital, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen P.","family":"Sanders","sequence":"additional","affiliation":[{"name":"The Stella and Richard Van Praagh Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children\u2019s Hospital, MA, USA"},{"name":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth D.","family":"Blume","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA"},{"name":"Department of Cardiology, Boston Children\u2019s Hospital, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Smoot","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA"},{"name":"Department of Cardiology, Boston Children\u2019s Hospital, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8036-6288","authenticated-orcid":false,"given":"Antonio R.","family":"Perez-Atayde","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children\u2019s Hospital and Harvard Medical School, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,6,4]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00601.2011"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9040937"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1050-1738(02)00184-6"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI38027"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg060"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-008-9139-8"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-84847-1_11"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.63.070194.002021"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/283249a0"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3780051"},{"issue":"4","key":"e_1_3_2_12_2","article-title":"Molecular analysis of intermediate filament cytoskeleton\u2014a putative load-bearing structure","volume":"246","author":"Price MG.","year":"1984","unstructured":"Price MG. Molecular analysis of intermediate filament cytoskeleton\u2014a putative load-bearing structure. Am J Physiol. 1984;246(4 Pt 2):H566-H572.","journal-title":"Am J Physiol"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1057-6"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2007.08.095"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejheart.2005.11.003"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-005-0980-1"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.19.2402"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.04.004"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181114"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0504568102"},{"issue":"3","key":"e_1_3_2_21_2","article-title":"1360C>T: a rare desmin variant causing early distal myopathy and cardiomyopathy","volume":"15","author":"Dias R","year":"2023","unstructured":"Dias R, Aguiar TC., DES c. 1360C>T: a rare desmin variant causing early distal myopathy and cardiomyopathy. Cureus. 2023;15(3):e36368.","journal-title":"Cureus"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrcr.2018.04.007"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2010.04.023"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20459"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.10.019"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.12.002"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.carpath.2024.107670"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266261447326","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266261447326","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266261447326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T20:28:26Z","timestamp":1793737706000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266261447326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,4]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["10.1177\/10935266261447326"],"URL":"https:\/\/doi.org\/10.1177\/10935266261447326","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,4]]}}}