{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T10:11:30Z","timestamp":1794391890287,"version":"4.9.0"},"reference-count":50,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1016\/j.ijcard.2024.132213","type":"journal-article","created":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T15:53:56Z","timestamp":1716652436000},"page":"132213","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Characteristics and outcomes associated with sarcomere mutations in patients with hypertrophic cardiomyopathy: A systematic review and meta-analysis"],"prefix":"10.1016","volume":"409","author":[{"given":"Zixi","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konglan","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuliang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hualong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianjing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjia","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenyan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2020","key":"10.1016\/j.ijcard.2024.132213_bb0005","first-page":"e533","article-title":"aha\/acc guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy","volume":"142","author":"Ommen","year":"2020","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2024.132213_bb0010","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/j.jacc.2021.11.021","article-title":"Management of hypertrophic cardiomyopathy","volume":"79","author":"Maron","year":"2022","journal-title":"J. Am. Coll. Cardiol."},{"issue":"2014","key":"10.1016\/j.ijcard.2024.132213_bb0015","first-page":"2733","article-title":"Esc guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the european society of cardiology (esc)","volume":"35","author":"Elliott","year":"2014","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ijcard.2024.132213_bb0020","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":"10.1016\/j.ijcard.2024.132213_bb0025","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/europace\/euac030","article-title":"European heart rhythm association (ehra)\/heart rhythm society (hrs)\/asia pacific heart rhythm society (aphrs)\/latin american heart rhythm society (lahrs) expert consensus statement on the state of genetic testing for cardiac diseases","volume":"24","author":"Wilde","year":"2022","journal-title":"EP Europace"},{"key":"10.1016\/j.ijcard.2024.132213_bb0030","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.ijcard.2024.132213_bb0035","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.1136\/heartjnl-2013-303939","article-title":"A systematic review and meta-analysis of genotype\u2013phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations","volume":"99","author":"Lopes","year":"2013","journal-title":"Heart"},{"key":"10.1016\/j.ijcard.2024.132213_bb0040","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.gheart.2015.01.001","article-title":"Clinical application of whf-moge(s) classification for hypertrophic cardiomyopathy","volume":"10","author":"Agarwal","year":"2015","journal-title":"Glob. Heart"},{"key":"10.1016\/j.ijcard.2024.132213_bb0045","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1007\/s12265-023-10441-2","article-title":"Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations","volume":"17","author":"Borrelli","year":"2023","journal-title":"J. Cardiovasc. Transl. Res."},{"key":"10.1016\/j.ijcard.2024.132213_bb0050","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.mayocp.2014.01.025","article-title":"Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy","volume":"89","author":"Bos","year":"2014","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.ijcard.2024.132213_bb0055","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.ijcard.2024.132213_bb0060","first-page":"241","article-title":"Moon, abnormal cardiac formation in hypertrophic cardiomyopathy, circulation: cardiovascular","volume":"7","author":"Captur","year":"2014","journal-title":"Genetics"},{"key":"10.1016\/j.ijcard.2024.132213_bb0065","doi-asserted-by":"crossref","DOI":"10.1093\/ehjci\/jeaa317","article-title":"Long-term outcomes and left ventricular diastolic function of sarcomere mutation-positive and mutation-negative patients with hypertrophic cardiomyopathy: a prospective cohort study","author":"Chen","year":"2020","journal-title":"Eur. Heart J. Cardiovasc. Imaging"},{"key":"10.1016\/j.ijcard.2024.132213_bb0070","doi-asserted-by":"crossref","first-page":"2235564","DOI":"10.1080\/07853890.2023.2235564","article-title":"Deep learning-derived 12-lead electrocardiogram-based genotype prediction for hypertrophic cardiomyopathy: a pilot study","volume":"55","author":"Chen","year":"2023","journal-title":"Ann. Med."},{"key":"10.1016\/j.ijcard.2024.132213_bb0075","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1007\/s00380-016-0920-0","article-title":"Prognostic predictive value of gene mutations in japanese patients with hypertrophic cardiomyopathy","volume":"32","author":"Chida","year":"2017","journal-title":"Heart Vessels"},{"key":"10.1016\/j.ijcard.2024.132213_bb0080","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s12947-020-00233-y","article-title":"Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy","volume":"19","author":"Chung","year":"2021","journal-title":"Cardiovasc. Ultrasound"},{"key":"10.1016\/j.ijcard.2024.132213_bb0085","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1080\/AC.67.1.2146562","article-title":"Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy","volume":"67","author":"Curila","year":"2017","journal-title":"Acta Cardiol."},{"key":"10.1016\/j.ijcard.2024.132213_bb0090","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.123.004200","article-title":"Genotype-phenotype taxonomy of hypertrophic cardiomyopathy","volume":"16","author":"Curran","year":"2023","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.ijcard.2024.132213_bb0095","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2022.915649","article-title":"The involvement of alpk3 in hypertrophic cardiomyopathy in east asia","volume":"9","author":"Dai","year":"2022","journal-title":"Front. Med."},{"key":"10.1016\/j.ijcard.2024.132213_bb0100","doi-asserted-by":"crossref","DOI":"10.1136\/openhrt-2020-001560","article-title":"Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity","volume":"8","author":"de Feria","year":"2021","journal-title":"Open Heart"},{"key":"10.1016\/j.ijcard.2024.132213_bb0105","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1034\/j.1399-0004.2003.00151.x","article-title":"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy","volume":"64","author":"Erdmann","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ijcard.2024.132213_bb0110","first-page":"459","article-title":"Sarcomere gene mutations are associated with increased cardiovascular events in left ventricular hypertrophy, JACC","volume":"1","author":"Fujita","year":"2013","journal-title":"Heart Failure"},{"key":"10.1016\/j.ijcard.2024.132213_bb0115","doi-asserted-by":"crossref","first-page":"865","DOI":"10.2217\/epi-2017-0175","article-title":"Genetic variation at the long noncoding rnah19 gene is associated with the risk of hypertrophic cardiomyopathy","volume":"10","author":"G\u00f3mez","year":"2018","journal-title":"Epigenomics"},{"key":"10.1016\/j.ijcard.2024.132213_bb0120","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1038\/gim.2013.44","article-title":"Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy","volume":"15","author":"Ingles","year":"2013","journal-title":"Genet. Med."},{"key":"10.1016\/j.ijcard.2024.132213_bb0125","first-page":"416","article-title":"Genotype-positive status in patients with hypertrophic cardiomyopathy is associated with higher rates of heart failure events, circulation: cardiovascular","volume":"7","author":"Li","year":"2014","journal-title":"Genetics"},{"key":"10.1016\/j.ijcard.2024.132213_bb0130","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.amjcard.2013.04.021","article-title":"Mutation spectrum in a large cohort of unrelated chinese patients with hypertrophic cardiomyopathy","volume":"112","author":"Liu","year":"2013","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ijcard.2024.132213_bb0135","doi-asserted-by":"crossref","first-page":"3063","DOI":"10.1093\/eurheartj\/ehab424","article-title":"Alpha-protein kinase 3 (alpk3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy","volume":"42","author":"Lopes","year":"2021","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ijcard.2024.132213_bb0140","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1471-2261-14-36","article-title":"Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the brazilian population","volume":"14","author":"Marsiglia","year":"2014","journal-title":"BMC Cardiovasc. Disord."},{"key":"10.1016\/j.ijcard.2024.132213_bb0145","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.ejmg.2010.07.007","article-title":"Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy","volume":"53","author":"Millat","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ijcard.2024.132213_bb0150","doi-asserted-by":"crossref","first-page":"1846","DOI":"10.1253\/circj.CJ-20-0027","article-title":"Lifelong clinical impact of the presence of sarcomere gene mutation in japanese patients with hypertrophic cardiomyopathy","volume":"84","author":"Nakashima","year":"2020","journal-title":"Circ. J."},{"key":"10.1016\/j.ijcard.2024.132213_bb0155","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.bbrc.2003.08.014","article-title":"Hypertrophic cardiomyopathy: two homozygous cases with \u201ctypical\u201d hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy","volume":"309","author":"Nanni","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ijcard.2024.132213_bb0160","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1016\/j.jacc.2019.08.1057","article-title":"Distinct subgroups in hypertrophic cardiomyopathy in the nhlbi hcm registry","volume":"74","author":"Neubauer","year":"2019","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2024.132213_bb0165","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/S0025-6196(11)60890-2","article-title":"Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy","volume":"83","author":"Olivotto","year":"2008","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.ijcard.2024.132213_bb0170","doi-asserted-by":"crossref","first-page":"814","DOI":"10.3390\/diagnostics11050814","article-title":"The role of left-atrial mechanics assessed by two-dimensional speckle-tracking echocardiography to differentiate hypertrophic cardiomyopathy from hypertensive left-ventricular hypertrophy","volume":"11","author":"Popa-Fotea","year":"2021","journal-title":"Diagnostics"},{"key":"10.1016\/j.ijcard.2024.132213_bb0175","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1471-2350-11-67","article-title":"Screening mutations in myosin binding protein c3 gene in a cohort of patients with hypertrophic cardiomyopathy","volume":"11","author":"Rodr\u00edguez-Garc\u00eda","year":"2010","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ijcard.2024.132213_bb0180","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/eurjhf\/hfr074","article-title":"Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the german competence network heart failure","volume":"13","author":"Waldm\u00fcller","year":"2011","journal-title":"Eur. J. Heart Fail."},{"key":"10.1016\/j.ijcard.2024.132213_bb0185","article-title":"Association between left atrial myopathy and sarcomere mutation in patients with hypertrophic cardiomyopathy: insights into left atrial strain by mri feature tracking","author":"Wang","year":"2023","journal-title":"Eur. Radiol."},{"key":"10.1016\/j.ijcard.2024.132213_bb0190","first-page":"288","article-title":"Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy","volume":"4","author":"Gruner","year":"2011","journal-title":"Circulation: Cardiovascular Genetics"},{"key":"10.1016\/j.ijcard.2024.132213_bb0195","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ijcard.2022.10.153","article-title":"Syncope in hypertrophic cardiomyopathy (part ii): an expert consensus statement on the diagnosis and management","volume":"370","author":"Brignole","year":"2023","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ijcard.2024.132213_bb0200","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/s41569-021-00608-2","article-title":"Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies","volume":"19","author":"Walsh","year":"2022","journal-title":"Nat. Rev. Cardiol."},{"key":"10.1016\/j.ijcard.2024.132213_bb0205","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.122.026270","article-title":"Is there a sex difference in the prognosis of hypertrophic cardiomyopathy? A systematic review and meta-analysis","volume":"12","author":"Zhao","year":"2023","journal-title":"J. Am. Heart Assoc."},{"key":"10.1016\/j.ijcard.2024.132213_bb0210","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1007\/s11897-021-00526-x","article-title":"Sex differences in hypertrophic cardiomyopathy: interaction with genetics and environment","volume":"18","author":"Butters","year":"2021","journal-title":"Curr. Heart Fail. Rep."},{"key":"10.1016\/j.ijcard.2024.132213_bb0215","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2021.612215","article-title":"Sex-related differences in protein expression in sarcomere mutation-positive hypertrophic cardiomyopathy","volume":"8","author":"Schuldt","year":"2021","journal-title":"Front. Cardiovasc. Med."},{"key":"10.1016\/j.ijcard.2024.132213_bb0220","first-page":"514","article-title":"Understanding septal morphology in hypertrophic cardiomyopathy-implications for the surgeon","author":"Robich","year":"2022","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"10.1016\/j.ijcard.2024.132213_bb0225","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.120.003062","article-title":"Associations between female sex, sarcomere variants, and clinical outcomes in hypertrophic cardiomyopathy","volume":"14","author":"Lakdawala","year":"2021","journal-title":"Circ.-Genom. Precis. Med."},{"key":"10.1016\/j.ijcard.2024.132213_bb0230","doi-asserted-by":"crossref","first-page":"374184650","DOI":"10.1177\/20406223221136074","article-title":"Left ventricular outflow tract obstruction in hypertrophic cardiomyopathy and the impact of mavacamten","volume":"13","author":"Mathai","year":"2022","journal-title":"Ther. Adv. Chronic Dis."},{"key":"10.1016\/j.ijcard.2024.132213_bb0235","doi-asserted-by":"crossref","first-page":"24115","DOI":"10.1073\/pnas.1913905116","article-title":"Early sarcomere and metabolic defects in a zebrafish pitx2c cardiac arrhythmia model","volume":"116","author":"Collins","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ijcard.2024.132213_bb0240","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.3390\/cells10102789","article-title":"Ion channel impairment and myofilament ca(2+) sensitization: two parallel mechanisms underlying arrhythmogenesis in hypertrophic cardiomyopathy","volume":"10","author":"Santini","year":"2021","journal-title":"Cells"},{"key":"10.1016\/j.ijcard.2024.132213_bb0245","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.hrthm.2020.08.009","article-title":"Primary prevention implantable cardioverter-defibrillators in hypertrophic cardiomyopathy-are there predictors of appropriate therapy?","volume":"18","author":"Weissler-Snir","year":"2021","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.ijcard.2024.132213_bb0250","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1146\/annurev-med-042220-021539","article-title":"Hypertrophic cardiomyopathy: new concepts and therapies","volume":"73","author":"Maron","year":"2022","journal-title":"Annu. Rev. Med."}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527324008350?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527324008350?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T02:45:21Z","timestamp":1718419521000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167527324008350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":50,"alternative-id":["S0167527324008350"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2024.132213","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Characteristics and outcomes associated with sarcomere mutations in patients with hypertrophic cardiomyopathy: A systematic review and meta-analysis","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2024.132213","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"132213"}}