{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T06:30:46Z","timestamp":1782282646727,"version":"3.54.5"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:00:00Z","timestamp":1723593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Familial dilated cardiomyopathy prognosis and disease progression vary greatly depending upon the type of genetic mutation. Family history and genetic testing are paramount in developing the best treatment plan for a patient. However, with rare or novel mutations, the significance may be unknown. Regarding this, the following case report highlights the importance of vigilance and suspicion when treating a patient with a variant of unknown significance. Additionally, it shows the importance of thoroughly investigating the family history of cardiovascular disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 25-year-old Caucasian male was found to have a right bundle branch block and dilated cardiomyopathy upon presentation to the emergency department. Later testing showed that the dilated cardiomyopathy was due to an incredibly rare lamin A\/C (LMNA) gene mutation, R349L. Despite treatment with a maximum-tolerable medication regimen and an automatic implantable cardioverter-defibrillator, the patient continued to decline and required a heart transplant.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>This case provides more information on the severity of this specific LMNA mutation that has only been documented once before. Of note, the time from the initial emergency department visit to the heart transplant was approximately 2 years. Given the patient\u2019s young age and rapid disease progression, in addition to a strong family history of sudden cardiac death, the significance of this mutation should not be understated. The additional knowledge gained from this case report can be used to aid in timely interventions and prognosis evaluation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae423","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T23:09:36Z","timestamp":1723590576000},"source":"Crossref","is-referenced-by-count":1,"title":["Severe familial dilated cardiomyopathy in a young adult due to a rare LMNA mutation: a case report"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5424-2732","authenticated-orcid":false,"given":"Adam M","family":"Belcher","sequence":"first","affiliation":[{"name":"CAMC Institute for Academic Medicine, Charleston Area Medical Center , 3044 Chesterfield Ave, Charleston, WV 25304 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8423-4119","authenticated-orcid":false,"given":"Frank H","family":"Annie","sequence":"additional","affiliation":[{"name":"CAMC Institute for Academic Medicine, Charleston Area Medical Center , 3044 Chesterfield Ave, Charleston, WV 25304 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Rinehart","sequence":"additional","affiliation":[{"name":"CAMC Department of Cardiology, Charleston Area Medical Center , 3200 MacCorkle Ave SE, Charleston, WV 25304 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Elashery","sequence":"additional","affiliation":[{"name":"CAMC Department of Cardiology, Charleston Area Medical Center , 3200 MacCorkle Ave SE, Charleston, WV 25304 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Amer","sequence":"additional","affiliation":[{"name":"CAMC Department of Cardiology, Charleston Area Medical Center , 3200 MacCorkle Ave SE, Charleston, WV 25304 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,8,14]]},"reference":[{"key":"2024093011220086200_ytae423-B1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated cardiomyopathy: genetic determinants and mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ Res"},{"key":"2024093011220086200_ytae423-B2","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1016\/j.jacc.2016.08.058","article-title":"Long-term arrhythmic and nonarrhythmic outcomes of lamin A\/C mutation carriers","volume":"68","author":"Kumar","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"2024093011220086200_ytae423-B3","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0735-1097(02)02954-6","article-title":"Natural history of dilated cardiomyopathy due to lamin A\/C gene mutations","volume":"41","author":"Taylor","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"2024093011220086200_ytae423-B4","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur Heart J"},{"key":"2024093011220086200_ytae423-B5","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"key":"2024093011220086200_ytae423-B6","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.amjcard.2004.03.029","article-title":"Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A\/C gene mutations","volume":"94","author":"Hermida-Prieto","year":"2004","journal-title":"Am J Cardiol"},{"key":"2024093011220086200_ytae423-B7","doi-asserted-by":"crossref","first-page":"e000915","DOI":"10.1136\/openhrt-2018-000915","article-title":"Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature","volume":"5","author":"Captur","year":"2018","journal-title":"Open Heart"},{"key":"2024093011220086200_ytae423-B8","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1530\/EJE-12-0268","article-title":"Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations","volume":"167","author":"Mory","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"2024093011220086200_ytae423-B9","doi-asserted-by":"crossref","first-page":"eadg7492","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"}],"container-title":["European Heart Journal - 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