{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T00:02:31Z","timestamp":1762300951177,"version":"3.37.3"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T00:00:00Z","timestamp":1724457600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Dilated cardiomyopathy (DCM) is often hereditary, with 20% to 40% of nonischemic cases showing familial linkage, yet genetic testing is underused. This report describes an unreported pathogenic nonsense variant in the Titin (TTN) gene (NM_001267550.2:c.92603G&amp;gt;A) in a 24-year-old man with severe DCM and acute fibrinoid organizing pneumonia, highlighting a unique cardiopulmonary pathology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We conducted detailed gross, histopathologic, immunophenotypic, and exome-based DNA sequencing analysis in the workup of this case. We also included the patient\u2019s clinical and radiologic findings in our study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>With rapid clinical deterioration and complex comorbidities, including substance abuse and psychiatric conditions, which precluded transplantation, the patient\u2019s cardiac function progressively worsened. Autopsy findings included extreme cardiomegaly, biventricular hypertrophy, and acute and chronic pericarditis. Significant pulmonary pathology consistent with acute fibrinoid organizing pneumonia was also noted. Molecular testing confirmed a deleterious maternally inherited TTN variant that was absent in the sibling of the proband and the extant medical literature, highlighting its rarity and significance.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case contributes to the ongoing body of work on the impact of TTN variants on DCM. It suggests a potential link between genetic variants and complex cardiac injury patterns, emphasizing the need for further investigation into the interplay between cardiomyopathy and pulmonary pathology.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ajcp\/aqae100","type":"journal-article","created":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T18:46:16Z","timestamp":1724525176000},"page":"102-108","source":"Crossref","is-referenced-by-count":0,"title":["Identification of novel <i>TTN<\/i> gene variant in a patient exhibiting severe dilated cardiomyopathy co-occurring with acute fibrinoid organizing pneumonia"],"prefix":"10.1093","volume":"163","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4434-1371","authenticated-orcid":false,"given":"Weijie","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana L","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ourania","family":"Parra","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nidhi D","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Candice C","family":"Black","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael L","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wahab A","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center , Lebanon, NH ,","place":["US"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["US"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,8,24]]},"reference":[{"issue":"11","key":"2025021416503265800_CIT0001","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1097\/GIM.0b013e3181f2481f","article-title":"Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals","volume":"12","author":"Hershberger","year":"2010","journal-title":"Genet Med."},{"issue":"17","key":"2025021416503265800_CIT0002","doi-asserted-by":"publisher","first-page":"1682","DOI":"10.1016\/j.jacc.2021.08.039","article-title":"Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy","volume":"78","author":"Escobar-Lopez","year":"2021","journal-title":"J Am Coll 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