{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T14:08:44Z","timestamp":1777039724065,"version":"3.51.4"},"reference-count":34,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1162929"],"award-info":[{"award-number":["APP1162929"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","heartlungcirc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heart, Lung and Circulation"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.hlc.2019.10.014","type":"journal-article","created":{"date-parts":[[2019,11,28]],"date-time":"2019-11-28T20:13:49Z","timestamp":1574972029000},"page":"505-511","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":58,"title":["Genetic Testing in Inherited Heart Diseases"],"prefix":"10.1016","volume":"29","author":[{"given":"Jodie","family":"Ingles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Macciocca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Morales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate","family":"Thomson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.hlc.2019.10.014_bib1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1751-7133.2008.08201.x","article-title":"Family history: an essential tool for cardiovascular genetic medicine","volume":"14","author":"Morales","year":"2008","journal-title":"Congest Heart Fail"},{"key":"10.1016\/j.hlc.2019.10.014_bib2","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.tcm.2016.04.010","article-title":"Interdisciplinary psychosocial care for families with inherited cardiovascular diseases","volume":"26","author":"Caleshu","year":"2016","journal-title":"Trends Cardiovasc Med"},{"issue":"8","key":"10.1016\/j.hlc.2019.10.014_bib3","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.jacc.2012.02.068","article-title":"Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives","volume":"60","author":"Maron","year":"2012","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"2","key":"10.1016\/j.hlc.2019.10.014_bib4","doi-asserted-by":"crossref","first-page":"e002460","DOI":"10.1161\/CIRCGEN.119.002460","article-title":"Evaluating the clinical validity of hypertrophic cardiomyopathy genes","volume":"12","author":"Ingles","year":"2019","journal-title":"Circ Genom Precis Med"},{"issue":"2","key":"10.1016\/j.hlc.2019.10.014_bib5","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.116.001620","article-title":"Non-familial hypertrophic cardiomyopathy: prevalence, natural history, and clinical implications","volume":"10","author":"Ingles","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"issue":"9","key":"10.1016\/j.hlc.2019.10.014_bib6","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: the complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nature Rev Cardiol"},{"key":"10.1016\/j.hlc.2019.10.014_bib7","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/gim.2016.90","article-title":"Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples","volume":"19","author":"Walsh","year":"2017","journal-title":"Genet Med"},{"issue":"7","key":"10.1016\/j.hlc.2019.10.014_bib8","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N\u00a0Engl J Med"},{"issue":"4","key":"10.1016\/j.hlc.2019.10.014_bib9","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/nrcardio.2017.190","article-title":"Role of titin in cardiomyopathy: from DNA variants to patient stratification","volume":"15","author":"Ware","year":"2018","journal-title":"Nature Rev Cardiol"},{"issue":"21","key":"10.1016\/j.hlc.2019.10.014_bib10","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1016\/j.jacc.2016.08.058","article-title":"Long-term arrhythmic and nonarrhythmic outcomes of Lamin A\/C mutation carriers","volume":"68","author":"Kumar","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"8","key":"10.1016\/j.hlc.2019.10.014_bib11","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.hrthm.2011.05.020","article-title":"HRS\/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)","volume":"8","author":"Ackerman","year":"2011","journal-title":"Heart Rhythm"},{"issue":"110","key":"10.1016\/j.hlc.2019.10.014_bib12","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1016\/j.hrthm.2019.05.007","article-title":"2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm"},{"issue":"7","key":"10.1016\/j.hlc.2019.10.014_bib13","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1093\/eurheartj\/ehq025","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: proposed modification of the Task Force Criteria","volume":"31","author":"Marcus","year":"2010","journal-title":"Eur Heart J"},{"issue":"9","key":"10.1016\/j.hlc.2019.10.014_bib14","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1002\/humu.21064","article-title":"A genetic variants database for arrhythmogenic right ventricular dysplasia\/cardiomyopathy","volume":"30","author":"van der Zwaag","year":"2009","journal-title":"Hum Mutat"},{"issue":"23","key":"10.1016\/j.hlc.2019.10.014_bib15","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1016\/j.jacc.2010.12.036","article-title":"Distinguishing arrhythmogenic right ventricular cardiomyopathy\/dysplasia-associated mutations from background genetic noise","volume":"57","author":"Kapplinger","year":"2011","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"7","key":"10.1016\/j.hlc.2019.10.014_bib16","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.jacc.2017.12.019","article-title":"Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy","volume":"71","author":"van Waning","year":"2018","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"6","key":"10.1016\/j.hlc.2019.10.014_bib17","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.117.001735","article-title":"Genetic testing in pediatric left ventricular noncompaction","volume":"10","author":"Miller","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"issue":"6","key":"10.1016\/j.hlc.2019.10.014_bib18","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.117.001968","article-title":"Is left ventricular noncompaction a trait, phenotype, or disease? The evidence points to phenotype","volume":"10","author":"Hershberger","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"issue":"7","key":"10.1016\/j.hlc.2019.10.014_bib19","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1161\/CIRCRESAHA.117.310982","article-title":"Restrictive cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy","volume":"121","author":"Muchtar","year":"2017","journal-title":"Circ Res"},{"issue":"25","key":"10.1016\/j.hlc.2019.10.014_bib20","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.1016\/j.jacc.2016.04.024","article-title":"Idiopathic restrictive cardiomyopathy is primarily a genetic disease","volume":"67","author":"Gallego-Delgado","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"12","key":"10.1016\/j.hlc.2019.10.014_bib21","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.hrthm.2013.05.014","article-title":"HRS\/EHRA\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013","volume":"10","author":"Priori","year":"2013","journal-title":"Heart Rhythm"},{"issue":"8","key":"10.1016\/j.hlc.2019.10.014_bib22","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1016\/j.hrthm.2016.05.004","article-title":"A\u00a0novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia","volume":"13","author":"Gray","year":"2016","journal-title":"Heart Rhythm"},{"issue":"1","key":"10.1016\/j.hlc.2019.10.014_bib23","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.hrthm.2009.09.069","article-title":"An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing","volume":"7","author":"Kapplinger","year":"2010","journal-title":"Heart Rhythm"},{"issue":"12","key":"10.1016\/j.hlc.2019.10.014_bib24","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1161\/CIRCULATIONAHA.118.035070","article-title":"Reappraisal of reported genes for sudden arrhythmic death","volume":"138","author":"Hosseini","year":"2018","journal-title":"Circulation"},{"issue":"9","key":"10.1016\/j.hlc.2019.10.014_bib25","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1038\/ng.2712","article-title":"Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death","volume":"45","author":"Bezzina","year":"2013","journal-title":"Nat Genet"},{"issue":"22","key":"10.1016\/j.hlc.2019.10.014_bib26","doi-asserted-by":"crossref","first-page":"2578","DOI":"10.1016\/j.jacc.2016.03.520","article-title":"Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia","volume":"67","author":"Khera","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"6","key":"10.1016\/j.hlc.2019.10.014_bib27","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1016\/j.jacc.2018.05.044","article-title":"Clinical genetic testing for familial hypercholesterolemia: JACC Scientific Expert Panel","volume":"72","author":"Sturm","year":"2018","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"6","key":"10.1016\/j.hlc.2019.10.014_bib28","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.jacc.2018.04.089","article-title":"Clinical validity of genes for heritable thoracic aortic aneurysm and dissection","volume":"72","author":"Renard","year":"2018","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"6","key":"10.1016\/j.hlc.2019.10.014_bib29","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1161\/CIRCGENETICS.115.001093","article-title":"Application of genetic testing in hypertrophic cardiomyopathy for preclinical disease detection","volume":"8","author":"Ingles","year":"2015","journal-title":"Circ Cardiovasc Genet"},{"issue":"5","key":"10.1016\/j.hlc.2019.10.014_bib30","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":"10.1016\/j.hlc.2019.10.014_bib31","article-title":"Adaptation and validation of the ACMG\/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel","author":"Kelly","year":"2017","journal-title":"Genet Med"},{"issue":"D1","key":"10.1016\/j.hlc.2019.10.014_bib32","doi-asserted-by":"crossref","first-page":"D862\u22128","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.hlc.2019.10.014_bib33","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1097\/HCO.0000000000000629","article-title":"Polygenic risk scores in coronary artery disease","volume":"34","author":"Rao","year":"2019","journal-title":"Curr Opin Cardiol"},{"issue":"9","key":"10.1016\/j.hlc.2019.10.014_bib34","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/s41588-018-0183-z","article-title":"Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations","volume":"50","author":"Khera","year":"2018","journal-title":"Nat Genet"}],"container-title":["Heart, Lung and Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1443950619315173?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1443950619315173?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T18:00:06Z","timestamp":1761415206000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1443950619315173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S1443950619315173"],"URL":"https:\/\/doi.org\/10.1016\/j.hlc.2019.10.014","relation":{},"ISSN":["1443-9506"],"issn-type":[{"value":"1443-9506","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic Testing in Inherited Heart Diseases","name":"articletitle","label":"Article Title"},{"value":"Heart, Lung and Circulation","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hlc.2019.10.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}