{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T08:14:37Z","timestamp":1779264877418,"version":"3.51.4"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:00:00Z","timestamp":1777420800000},"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":[[2026,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Dilated cardiomyopathy (DCM) is a major cause of heart failure in young patients, with a genetic aetiology identified in up to 40% of cases. Variants in *CRYAB*, encoding the small heat shock protein \u03b1B-crystallin, are rare but increasingly recognized in inherited cardiomyopathies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>We report a 16-year-old male who presented with progressive heart failure symptoms and palpitations. Transthoracic echocardiography revealed a dilated left ventricle with severely reduced systolic function. Holter monitoring documented episodes of ventricular tachycardia. Cardiac magnetic resonance demonstrated global biventricular systolic dysfunction and focal mid-wall late gadolinium enhancement in the interventricular septum. Genetic testing identified a novel heterozygous *CRYAB* variant (p.Arg69Cys), confirmed by Sanger sequencing, together with a *PSEN2* variant of uncertain significance. The patient was treated with guideline-directed medical therapy for heart failure and underwent prophylactic implantable cardioverter\u2013defibrillator implantation. Clinical status and left ventricular function improved during follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This case highlights the importance of integrating advanced cardiac imaging and genetic testing in young patients with unexplained DCM and malignant ventricular arrhythmias. Novel *CRYAB* variants may be associated with early-onset DCM and arrhythmic risk, influencing prognostic assessment and management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytag299","type":"journal-article","created":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:54:13Z","timestamp":1777377253000},"source":"Crossref","is-referenced-by-count":0,"title":["Early-onset dilated cardiomyopathy associated with a novel CRYAB variant complicated by non-sustained ventricular tachycardia: a case report"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0805-9679","authenticated-orcid":false,"given":"Vy Le","family":"Tran","sequence":"first","affiliation":[{"name":"University of Health Science, Vietnam National University , Linh Trung Ward, Thu Duc City, Ho Chi Minh City 75306, Viet Nam"},{"name":"Thong Nhat Hospital , Ho Chi Minh City 72121, Viet Nam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,4,29]]},"reference":[{"key":"2026052004013874500_ytag299-B1","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"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":"2026052004013874500_ytag299-B2","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.nmd.2011.07.004","article-title":"A novel CRYAB mutation resulting in multisystemic disease","volume":"22","author":"Sacconi","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"2026052004013874500_ytag299-B3","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC guidelines for the management of cardiomyopathies: developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"key":"2026052004013874500_ytag299-B4","doi-asserted-by":"crossref","first-page":"3158","DOI":"10.1016\/j.jacc.2018.09.072","article-title":"Cardiovascular magnetic resonance in nonischemic myocardial inflammation: expert recommendations","volume":"72","author":"Ferreira","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"2026052004013874500_ytag299-B5","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum was quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2026052004013874500_ytag299-B6","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2026052004013874500_ytag299-B7","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/1765","article-title":"A missense mutation in the \u03b1B-crystallin chaperone gene causes a desmin-related myopathy","volume":"20","author":"Vicart","year":"1998","journal-title":"Nat Genet"},{"key":"2026052004013874500_ytag299-B8","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2026052004013874500_ytag299-B9","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/509900","article-title":"Mutations of presenilin genes in dilated cardiomyopathy and heart failure","volume":"79","author":"Li","year":"2006","journal-title":"Am J Hum Genet"},{"key":"2026052004013874500_ytag299-B10","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1161\/CIRCULATIONAHA.116.027134","article-title":"Personalizing risk stratification for sudden death in dilated cardiomyopathy: the role of cardiac magnetic resonance imaging","volume":"136","author":"Halliday","year":"2017","journal-title":"Circulation"},{"key":"2026052004013874500_ytag299-B11","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.bbrc.2006.01.154","article-title":"Alpha-B crystallin mutation in dilated cardiomyopathy","volume":"342","author":"Inagaki","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"2026052004013874500_ytag299-B12","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/ana.10767","article-title":"Myofibrillar myopathy caused by novel dominant negative \u03b1B-crystallin mutations","volume":"54","author":"Selcen","year":"2003","journal-title":"Ann Neurol"}],"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\/ytag299\/68184225\/ytag299.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/10\/5\/ytag299\/68184225\/ytag299.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/10\/5\/ytag299\/68184225\/ytag299.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T08:01:51Z","timestamp":1779264111000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytag299\/8664588"}},"subtitle":[],"editor":[{"given":"Raheel","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Hassan Ahmed Hassan","family":"Abdou","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"A","family":"Ashika","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Deepti","family":"Ranganathan","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,4,29]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,4,30]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytag299","relation":{},"ISSN":["2514-2119"],"issn-type":[{"value":"2514-2119","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5]]},"published":{"date-parts":[[2026,4,29]]},"article-number":"ytag299"}}