{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T06:06:49Z","timestamp":1777702009675,"version":"3.51.4"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,2,8]]},"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>In this study, we discuss a female patient referred to cardiology with left ventricular hypertrophy at mid-ventricular segments resulting in a mid-cavitary obstruction and a left ventricular apical aneurysm. The patient had normal epicardial coronary arteries, but presented with recurrent cerebrovascular events. The patient had a positive family history for sudden cardiac death. Cardiac MRI detected positive features of left ventricular mid-cavity obstruction, left ventricular apical aneurysm and delayed gadolinium enhancement, with Holter monitoring assessment displaying segments of non-sustained ventricular tachycardia. Genetic analysis detected an myosin light chain 3 (<jats:italic>MYL3<\/jats:italic>) gene mutation. The patient will be referred to receive an implantable cardioverter defibrillator.<\/jats:p>\n               <jats:p>The <jats:italic>MYL3<\/jats:italic> gene mutation is a rare variant in patients with familial hypertrophic cardiomyopathy. To our knowledge, the presence of a left ventricular apical aneurysm has not been previously reported in literature concerning the <jats:italic>MYL3<\/jats:italic> gene mutation. The presence of this abnormality further increases the risk of sudden cardiac death.<\/jats:p>","DOI":"10.1136\/bcr-2021-244573","type":"journal-article","created":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T12:00:21Z","timestamp":1647259221000},"page":"e244573","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Mutation of the <i>MYL3<\/i> gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathy"],"prefix":"10.1136","volume":"15","author":[{"given":"Akash","family":"Mavilakandy","sequence":"first","affiliation":[{"name":"Department of General Medicine, University Hospitals of Leicester NHS Trust, Leicester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisham","family":"Ahamed","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Amrita Institute of Medical Sciences, Cochin, Kerala, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,3,14]]},"reference":[{"key":"2025082706461990000_15.3.e244573.1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0196612","article-title":"Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany-An analysis of over 5 million patients","volume":"13","author":"Husser","year":"2018","journal-title":"PLoS One"},{"key":"2025082706461990000_15.3.e244573.2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.117.311059"},{"key":"2025082706461990000_15.3.e244573.3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2012\/685108","article-title":"A novel myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity","volume":"2012","author":"Andersen","year":"2012","journal-title":"Biochem Res Int"},{"key":"2025082706461990000_15.3.e244573.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"2025082706461990000_15.3.e244573.5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.108.821314"},{"key":"2025082706461990000_15.3.e244573.6","unstructured":"MYL3 : c.454G>A. Atlas of Cardiac Genetic Variation. Available: https:\/\/www.cardiodb.org\/acgv\/acgv_variant.php?id=4715"},{"key":"2025082706461990000_15.3.e244573.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-63"},{"key":"2025082706461990000_15.3.e244573.8","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000018444.47798.94"},{"key":"2025082706461990000_15.3.e244573.9","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.547448"},{"key":"2025082706461990000_15.3.e244573.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34097"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-244573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T13:46:28Z","timestamp":1756302388000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-244573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3,14]]},"published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1136\/bcr-2021-244573"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-244573","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}