{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T06:38:42Z","timestamp":1764052722018,"version":"3.45.0"},"reference-count":12,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,11,6]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>A female in her early 40s with a history of acute decompensated congestive heart failure was admitted following a farming accident and received a contrast-enhanced CT trauma scan of the whole body which subsequently revealed extensive lung fibrosis, cavitations, granulomas and hilar lymphadenopathy. Subsequent whole body 18F-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET-CT) showed no evidence of metabolic activity within the myocardium or skeletal muscles, excluding cardiac sarcoidosis and inflammatory cardiac disease, but extensive pulmonary metabolic activity consistent with pulmonary sarcoidosis. Cardiac MRI ventricular volume studies excluded inflammatory, infiltrative or ischaemic pathology; however, genetic testing identified the LMNA A\/C gene mutation. She had also exhibited truncal, proximal and axial muscle weakness following her original admission. In this report, we present the rare and challenging coexistence of pulmonary sarcoidosis and LMNA-related dilated cardiomyopathy with laminopathy-associated proximal myopathy and describe the challenges with overlapping multisystem diseases.<\/jats:p>","DOI":"10.1136\/bcr-2025-268857","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T06:35:28Z","timestamp":1764052528000},"page":"e268857","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rare clinical convergence: pulmonary sarcoidosis with dilated cardiomyopathy and central myopathy"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8298-241X","authenticated-orcid":false,"given":"Alan","family":"Kan","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Lara","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5024-3615","authenticated-orcid":false,"given":"Tarunya","family":"Arun","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University Hospital Coventry and Warwickshire NHS Trust, Coventry, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prithwish","family":"Banerjee","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Hospital Coventry & Warwickshire, Coventry, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"key":"2025112422352392000_18.11.e268857.1","doi-asserted-by":"crossref","unstructured":"Bonella F , Culver DA , Isra\u00ebl-Biet D . Sarcoidosis. 2nd edn. Sheffield: European Respiratory Society, 2022.","DOI":"10.1183\/2312508X.erm9622"},{"key":"2025112422352392000_18.11.e268857.2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.cardfail.2021.06.016","article-title":"Sarcoidosis-Related Cardiomyopathy: Current Knowledge, Challenges, and Future Perspectives State-of-the-Art Review","volume":"28","author":"Gilotra","year":"2022","journal-title":"J Card Fail"},{"key":"2025112422352392000_18.11.e268857.3","unstructured":"Hershberger RE , Jordan E , et al . LMNA-related dilated cardiomyopathy. Seattle (WA): University of Washington, 1993."},{"key":"2025112422352392000_18.11.e268857.4","doi-asserted-by":"crossref","DOI":"10.1016\/j.lanepe.2025.101283","article-title":"Incidence, prevalence, and mortality of sarcoidosis in England: a population-based study","volume":"53","author":"Bechman","year":"2025","journal-title":"Lancet Reg Health Eur"},{"key":"2025112422352392000_18.11.e268857.5","first-page":"19","article-title":"The WASOG Sarcoidosis Organ Assessment Instrument: An update of a previous clinical tool","volume":"31","author":"Judson","year":"2014","journal-title":"Sarcoidosis Vasc Diffuse Lung Dis"},{"key":"2025112422352392000_18.11.e268857.6","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.122.025565","article-title":"Utility of Updated Japanese Circulation Society Guidelines to Diagnose Isolated Cardiac Sarcoidosis","volume":"11","author":"Sato","year":"2022","journal-title":"J Am Heart Assoc"},{"key":"2025112422352392000_18.11.e268857.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.11.008"},{"key":"2025112422352392000_18.11.e268857.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2007.03.028"},{"key":"2025112422352392000_18.11.e268857.9","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/eurheartj\/ehx650","article-title":"Lamin A\/C mutations in patients with dilated cardiomyopathy","volume":"39","author":"Pankuweit","year":"2018","journal-title":"Eur Heart J"},{"key":"2025112422352392000_18.11.e268857.10","doi-asserted-by":"crossref","DOI":"10.3390\/cells5030033","article-title":"Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features","volume":"5","author":"Maggi","year":"2016","journal-title":"Cells"},{"key":"2025112422352392000_18.11.e268857.11","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.164.7.709"},{"key":"2025112422352392000_18.11.e268857.12","doi-asserted-by":"publisher","DOI":"10.1677\/JOE-07-0606"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T06:35:30Z","timestamp":1764052530000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":12,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,24]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-268857"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268857","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}