{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:11:01Z","timestamp":1792203061298,"version":"4.4.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:00:00Z","timestamp":1787529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revista Portuguesa de Cardiologia"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1016\/j.repc.2026.03.020","type":"journal-article","created":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:37:24Z","timestamp":1787614644000},"page":"565-578","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Phenotype and outcome of patients with hypertrophic cardiomyopathy MYH7 variants: A longitudinal cohort study"],"prefix":"10.1016","volume":"45","author":[{"given":"Catarina","family":"Greg\u00f3rio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Vilela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Beatriz","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana","family":"Moldovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Madeira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fausto J.","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dulce","family":"Brito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.repc.2026.03.020_bib0195","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":"10.1016\/j.repc.2026.03.020_bib0200","doi-asserted-by":"crossref","first-page":"3945","DOI":"10.1093\/eurheartj\/ehab608","article-title":"Sudden cardiac death in hypertrophic cardiomyopathy: time to change the narrative","volume":"42","author":"Elliott","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.repc.2026.03.020_bib0205","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ijcard.2023.04.005","article-title":"How common is hypertrophic cardiomyopathy\u2026 really? Disease prevalence revisited 27 years after CARDIA","volume":"382","author":"Massera","year":"2023","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0210","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1001\/jamacardio.2021.0689","article-title":"Prevalence of hypertrophic cardiomyopathy in the UK biobank population","volume":"6","author":"Lopes","year":"2021","journal-title":"JAMA Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0215","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1016\/j.jacc.2015.01.019","article-title":"New perspectives on the prevalence of hypertrophic cardiomyopathy","volume":"65","author":"Semsarian","year":"2015","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0220","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.jacc.2021.12.002","article-title":"Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review","volume":"79","author":"Maron","year":"2022","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0225","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.jchf.2018.02.010","article-title":"Hypertrophic cardiomyopathy: clinical update","volume":"6","author":"Geske","year":"2018","journal-title":"JACC Heart Fail"},{"key":"10.1016\/j.repc.2026.03.020_bib0230","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1161\/CIRCRESAHA.121.318346","article-title":"Molecular genetic basis of hypertrophic cardiomyopathy","volume":"128","author":"Marian","year":"2021","journal-title":"Circ Res"},{"key":"10.1016\/j.repc.2026.03.020_bib0235","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.hfc.2009.12.001","article-title":"Hypertrophic cardiomyopathy","volume":"6","author":"Ho","year":"2010","journal-title":"Heart Fail Clin"},{"key":"10.1016\/j.repc.2026.03.020_bib0240","doi-asserted-by":"crossref","first-page":"2727","DOI":"10.1093\/eurheartj\/ehae421","article-title":"Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice","volume":"45","author":"Lopes","year":"2024","journal-title":"Eur Heart J"},{"key":"10.1016\/j.repc.2026.03.020_bib0245","first-page":"742","article-title":"Emerging themes in genetics of hypertrophic cardiomyopathy: current status and clinical application","volume":"40","author":"Garc\u00eda-Hern\u00e1ndez","year":"2024","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0250","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1007\/s00392-017-1155-5","article-title":"Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals","volume":"107","author":"Sedaghat-Hamedani","year":"2018","journal-title":"Clin Res Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0255","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1186\/s12872-020-01807-4","article-title":"Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy","volume":"20","author":"Velicki","year":"2020","journal-title":"BMC Cardiovasc Disord"},{"key":"10.1016\/j.repc.2026.03.020_bib0260","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1161\/CIRCULATIONAHA.117.033200","article-title":"Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)","volume":"138","author":"Ho","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.repc.2026.03.020_bib0265","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/j.jacc.2020.06.011","article-title":"Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers","volume":"76","author":"Lorenzini","year":"2020","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0270","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.jchf.2023.07.007","article-title":"Penetrance and prognosis of MYH7 variant-associated cardiomyopathies: results from a Dutch Multicenter Cohort Study","volume":"12","author":"Jansen","year":"2024","journal-title":"JACC Heart Fail"},{"key":"10.1016\/j.repc.2026.03.020_bib0275","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/europace\/euac030","volume":"24","author":"Wilde","year":"2022","journal-title":"Europace"},{"key":"10.1016\/j.repc.2026.03.020_bib0280","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1016\/j.jacc.2005.04.062","article-title":"Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients","volume":"46","author":"Biagini","year":"2005","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0285","first-page":"23","article-title":"Perspectives on current recommendations for genetic testing in HCM","volume":"2018","author":"Monserrat","year":"2018","journal-title":"Glob Cardiol Sci Pract"},{"key":"10.1016\/j.repc.2026.03.020_bib0290","doi-asserted-by":"crossref","first-page":"314","DOI":"10.3390\/medicina58020314","article-title":"Gender related differences in the clinical presentation of hypertrophic cardiomyopathy \u2013 an analysis from the SILICOFCM Database","volume":"58","author":"Preveden","year":"2022","journal-title":"Medicina (Kaunas)"},{"key":"10.1016\/j.repc.2026.03.020_bib0295","doi-asserted-by":"crossref","first-page":"3805","DOI":"10.1091\/mbc.e13-08-0444","article-title":"Estrogen regulates histone deacetylases to prevent cardiac hypertrophy","volume":"24","author":"Pedram","year":"2013","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.repc.2026.03.020_bib0300","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.jacc.2005.04.043","article-title":"Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy","volume":"46","author":"Olivotto","year":"2005","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0305","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1161\/CIRCULATIONAHA.123.065987","article-title":"Meta-analysis of penetrance and systematic review on transition to disease in genetic hypertrophic cardiomyopathy","volume":"149","author":"Topriceanu","year":"2024","journal-title":"Circulation"},{"key":"10.1016\/j.repc.2026.03.020_bib0310","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.repc.2023.10.013","article-title":"Hypertrophic cardiomyopathy: paradigm shifts in the last 30 years (part 1)","volume":"43","author":"Cardim","year":"2024","journal-title":"Rev Port Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0315","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.ahj.2013.07.029","article-title":"Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy","volume":"166","author":"Marsiglia","year":"2013","journal-title":"Am Heart J"},{"key":"10.1016\/j.repc.2026.03.020_bib0320","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.jacc.2008.04.047","article-title":"Assessment and significance of left ventricular mass by cardiovascular magnetic resonance in hypertrophic cardiomyopathy","volume":"52","author":"Olivotto","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0325","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1016\/j.jcmg.2021.03.032","article-title":"Maximal wall thickness measurement in hypertrophic cardiomyopathy: biomarker variability and its impact on clinical care","volume":"14","author":"Captur","year":"2021","journal-title":"JACC Cardiovasc Imaging"},{"key":"10.1016\/j.repc.2026.03.020_bib0330","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.118.005191","article-title":"Incident atrial fibrillation is associated with MYH7 sarcomeric gene variation in hypertrophic cardiomyopathy","volume":"11","author":"Lee","year":"2018","journal-title":"Circ Heart Fail"},{"key":"10.1016\/j.repc.2026.03.020_bib0335","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.repc.2023.12.008","article-title":"Hypertrophic cardiomyopathy: paradigm shifts in the last 30 years (part 2)","volume":"43","author":"Cardim","year":"2024","journal-title":"Rev Port Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0340","doi-asserted-by":"crossref","first-page":"320","DOI":"10.3390\/genes13020320","article-title":"Genotype\u2013phenotype correlation in hypertrophic cardiomyopathy: new variant p.Arg652Lys in MYH7","volume":"13","author":"Antoniutti","year":"2022","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.repc.2026.03.020_bib0345","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","article-title":"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy [published correction appears in Circulation. 2004 Jun 29;109(25):3258]","volume":"107","author":"Richard","year":"2003","journal-title":"Circulation"},{"key":"10.1016\/j.repc.2026.03.020_bib0350","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1002\/ejhf.144","article-title":"Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy","volume":"16","author":"Wang","year":"2014","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.repc.2026.03.020_bib0355","doi-asserted-by":"crossref","DOI":"10.1001\/jamapediatrics.2018.2302","article-title":"Clinical utility of reinterpreting previously reported genomic epilepsy test results for pediatric patients","volume":"173","author":"SoRelle","year":"2019","journal-title":"JAMA Pediatr"},{"key":"10.1016\/j.repc.2026.03.020_bib0360","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1136\/jmg-2023-109488","article-title":"Variant reclassification and clinical implications","volume":"61","author":"Walsh","year":"2024","journal-title":"J Med Genet"},{"key":"10.1016\/j.repc.2026.03.020_bib0365","doi-asserted-by":"crossref","first-page":"13H","DOI":"10.1016\/S0002-9149(99)00251-9","article-title":"Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation","volume":"83","author":"Gruver","year":"1999","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0370","first-page":"1445","article-title":"Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up","volume":"22","author":"Brito","year":"2003","journal-title":"Rev Port Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0375","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.repc.2011.12.020","article-title":"Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population","volume":"31","author":"Brito","year":"2012","journal-title":"Rev Port Cardiol"},{"key":"10.1016\/j.repc.2026.03.020_bib0385","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1136\/jmg.37.12.951","article-title":"Expression of HCM causing mutations: lessons learnt from genotype\u2013phenotype studies of the South African founder MYH7 A797T mutation","volume":"37","author":"Moolman-Smook","year":"2000","journal-title":"J Med Genet"}],"container-title":["Revista Portuguesa de Cardiologia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0870255126002623?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0870255126002623?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T14:25:28Z","timestamp":1792160728000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0870255126002623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":38,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["S0870255126002623"],"URL":"https:\/\/doi.org\/10.1016\/j.repc.2026.03.020","relation":{},"ISSN":["0870-2551"],"issn-type":[{"value":"0870-2551","type":"print"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotype and outcome of patients with hypertrophic cardiomyopathy MYH7 variants: A longitudinal cohort study","name":"articletitle","label":"Article Title"},{"value":"Revista Portuguesa de Cardiologia","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.repc.2026.03.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}