{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:49:55Z","timestamp":1753876195304,"version":"3.41.2"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T00:00:00Z","timestamp":1647907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Lamin A\/C-associated heart disease is a group of clinical entities characterized by a mutation in the LMNA gene. Multiple cardiac phenotypes have been described, including a higher risk of sudden death.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 23-year-old asymptomatic patient with an extensive history of heart disease in the family consulted the clinic. He had a genetic test performed when he was born revealing a new frameshift mutation in the LMNA gene. Numerous cardiac function tests were ordered, which initially were normal. After a year of follow-up, Holter monitoring was positive for episodes of nonsustained ventricular tachycardia (NSVT). Because of the risk factors and higher likelihood of sudden death, a decision was made to offer an implantable cardiac defibrillator (ICD), which was performed without complications. The patient continues the follow-up with cardiology and electrophysiology consisting of yearly cardiac imaging and device recordings.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Lamins are nuclear proteins involved in various cellular processes in myocardial cells. Therefore, mutations are associated with wide phenotypic alterations. The mutation described here was not previously reported in the literature. In the face of an undescribed mutation, the decision to use an ICD for primary prevention of sudden death is challenging. Because of the episodes of NSVT and a higher likelihood of risk of sudden death due to male sex and first-degree atrioventricular block, the decision to use an ICD was made for this patient, with no complications.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytac128","type":"journal-article","created":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T22:34:04Z","timestamp":1648161244000},"source":"Crossref","is-referenced-by-count":3,"title":["A case report of a novel mutation in lamin A\/C gene related with risk of sudden death"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8259-9480","authenticated-orcid":false,"given":"Carlos Andres","family":"Sanchez Vallejo","sequence":"first","affiliation":[{"name":"Hospital Univesitario Fundaci\u00f3n Santa Fe - Internal medicine department - Cardiology section, Carrera 7 #117-15, Bogot\u00e1 111071, Colombia"},{"name":"Universidad de los Andes, Faculty of Medicine, Carrera 1 #18a-12, Bogot\u00e1 111711, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8025-1851","authenticated-orcid":false,"given":"Carlos Daniel","family":"Rodriguez Ariza","sequence":"additional","affiliation":[{"name":"Hospital Univesitario Fundaci\u00f3n Santa Fe - Internal medicine department, Carrera 7 #117-15, Bogot\u00e1 111071, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Alfredo","family":"Restrepo Urbina","sequence":"additional","affiliation":[{"name":"Hospital Univesitario Fundaci\u00f3n Santa Fe - Internal medicine department - Cardiology section, Carrera 7 #117-15, Bogot\u00e1 111071, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3317-1845","authenticated-orcid":false,"given":"Santiago","family":"Callegari Osorio","sequence":"additional","affiliation":[{"name":"Universidad de los Andes, Faculty of Medicine, Carrera 1 #18a-12, Bogot\u00e1 111711, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,3,22]]},"reference":[{"key":"2022041317384938600_ytac128-B1","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1136\/heartjnl-2017-312338","article-title":"Lamin and the heart","volume":"104","author":"Captur","year":"2017","journal-title":"Heart"},{"key":"2022041317384938600_ytac128-B2","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s00109-004-0589-1","article-title":"Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A\/C mutations portend a high risk of sudden death?","volume":"83","author":"van Berlo","year":"2004","journal-title":"J Mole Med"},{"key":"2022041317384938600_ytac128-B3","doi-asserted-by":"crossref","first-page":"e570","DOI":"10.1016\/j.ejmg.2011.07.005","article-title":"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy","volume":"54","author":"Millat","year":"2011","journal-title":"Eur J Med Genet"},{"key":"2022041317384938600_ytac128-B4","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S0735-1097(02)01724-2","article-title":"Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A\/C defect-related disease","volume":"39","author":"Arbustini","year":"2002","journal-title":"J Am Coll Cardiol"},{"key":"2022041317384938600_ytac128-B5","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.ehj.2004.01.020","article-title":"A novel mutation, Ser143Pro, in the lamin A\/C gene is common in finnish patients with familial dilated cardiomyopathy","volume":"25","author":"K\u00e4rkk\u00e4inen","year":"2004","journal-title":"Eur Heart J"},{"key":"2022041317384938600_ytac128-B6","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jacc.2011.08.078","article-title":"Risk factors for malignant ventricular arrhythmias in lamin A\/C mutation carriers","volume":"59","author":"van Rijsingen","year":"2012","journal-title":"J Am Coll Cardiol"},{"key":"2022041317384938600_ytac128-B7","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/europace\/eut291","article-title":"Risk prediction of ventricular arrhythmias and myocardial function in lamin A\/C mutation positive subjects","volume":"16","author":"Hasselberg","year":"2014","journal-title":"Europace"},{"key":"2022041317384938600_ytac128-B8","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1093\/europace\/eut272","article-title":"Executive summary: HRS\/EHRA\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes","volume":"15","author":"Priori","year":"2013","journal-title":"Europace"},{"key":"2022041317384938600_ytac128-B9","first-page":"e272","article-title":"AHA\/ACC\/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"138","author":"Al-Khatib","year":"2018","journal-title":"Circulation"},{"key":"2022041317384938600_ytac128-B10","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1016\/j.hrthm.2019.05.007","article-title":"HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm"},{"key":"2022041317384938600_ytac128-B11","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","article-title":"ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"2022041317384938600_ytac128-B12","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1161\/CIRCULATIONAHA.118.039410","article-title":"Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies","volume":"140","author":"Wahbi","year":"2019","journal-title":"Circulation"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ehjcr\/advance-article-pdf\/doi\/10.1093\/ehjcr\/ytac128\/42977350\/ytac128.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/6\/4\/ytac128\/43375667\/ytac128.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/6\/4\/ytac128\/43375667\/ytac128.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T17:39:18Z","timestamp":1649871558000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytac128\/6552236"}},"subtitle":[],"editor":[{"given":"Richard","family":"Ang","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Christoph","family":"Sinning","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Vishal Shahil","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Brett Sydney","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Katharine","family":"Kott","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,3,22]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4,13]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytac128","relation":{},"ISSN":["2514-2119"],"issn-type":[{"type":"electronic","value":"2514-2119"}],"subject":[],"published-other":{"date-parts":[[2022,4,1]]},"published":{"date-parts":[[2022,3,22]]},"article-number":"ytac128"}}