{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T12:59:19Z","timestamp":1789563559812,"version":"build-2803163510"},"reference-count":30,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Heart, Lung and Circulation"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.hlc.2011.07.013","type":"journal-article","created":{"date-parts":[[2011,10,17]],"date-time":"2011-10-17T12:54:48Z","timestamp":1318856088000},"page":"681-687","source":"Crossref","is-referenced-by-count":55,"title":["Guidelines for Genetic Testing of Inherited Cardiac Disorders"],"prefix":"10.1016","volume":"20","author":[{"given":"Jodie","family":"Ingles","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poonam R.","family":"Zodgekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Yeates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Macciocca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Semsarian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Fatkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.hlc.2011.07.013_bib0005","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1111\/j.1445-5994.2006.01241.x","article-title":"Sudden cardiac death in the young: a clinical genetic approach","volume":"37","author":"Ingles","year":"2007","journal-title":"Int Med J"},{"key":"10.1016\/j.hlc.2011.07.013_bib0010","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1097\/HCO.0b013e3283374d69","article-title":"Genetic testing in cardiovascular diseases","volume":"25","author":"Hofman","year":"2010","journal-title":"Curr Opin Cardiol"},{"key":"10.1016\/j.hlc.2011.07.013_bib0015","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1136\/jmg.36.7.542","article-title":"Double heterozygosity for mutations in the \u03b2-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy","volume":"36","author":"Richard","year":"1999","journal-title":"J Med Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0020","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1016\/j.jacc.2004.07.045","article-title":"Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy","volume":"44","author":"Van Driest","year":"2004","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hlc.2011.07.013_bib0025","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1161\/01.CIR.0000125524.34234.13","article-title":"Compound mutations: a common cause of severe long-QT syndrome","volume":"109","author":"Westenskow","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.hlc.2011.07.013_bib0030","doi-asserted-by":"crossref","first-page":"e59","DOI":"10.1136\/jmg.2005.033886","article-title":"Compound and double mutations in patients with hypertrophic cardiomyopathy: implication for genetic testing and counselling","volume":"42","author":"Ingles","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0035","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.hrthm.2009.09.070","article-title":"Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy\/dysplasia","volume":"7","author":"Bauce","year":"2010","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hlc.2011.07.013_bib0040","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/j.hrthm.2009.05.021","article-title":"Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test","volume":"6","author":"Kapplinger","year":"2009","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hlc.2011.07.013_bib0045","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1161\/CIRCGENETICS.108.836478","article-title":"Multiple mutations in genetic cardiovascular disease: a marker of disease severity?","volume":"2","author":"Kelly","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0050","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1097\/GIM.0b013e3181612cc7","article-title":"Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy","volume":"10","author":"Ingles","year":"2008","journal-title":"Genet Med"},{"key":"10.1016\/j.hlc.2011.07.013_bib0055","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.cardfail.2009.01.006","article-title":"Genetic evaluation of cardiomyopathy\u2014a heart failure society of America practice guideline","volume":"15","author":"Hershberger","year":"2009","journal-title":"J Cardiac Fail"},{"key":"10.1016\/j.hlc.2011.07.013_bib0060","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.hfc.2009.11.003","article-title":"Genetics of dilated cardiomyopathy","volume":"6","author":"Fatkin","year":"2010","journal-title":"Heart Fail Clin"},{"key":"10.1016\/j.hlc.2011.07.013_bib0065","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M","article-title":"Proof of \u201cdisease-causing\u201d mutation","volume":"12","author":"Cotton","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hlc.2011.07.013_bib0070","series-title":"Principles and Practice of clinical cardiovascular genetics","first-page":"543","article-title":"Genetic counseling in cardiovascular genetics","author":"Macciocca","year":"2010"},{"key":"10.1016\/j.hlc.2011.07.013_bib0075","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1002\/ajmg.a.30861","article-title":"Can parents adjust to the idea that their child is at risk for a sudden death? Psychological impact of risk for long QT syndrome","volume":"138","author":"Hendriks","year":"2005","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0080","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/j.hrthm.2008.01.032","article-title":"Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome","volume":"5","author":"Hendriks","year":"2008","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hlc.2011.07.013_bib0085","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1002\/ajmg.a.32710","article-title":"Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study","volume":"149A","author":"Christiaans","year":"2009","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0090","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1034\/j.1399-0004.2003.00157.x","article-title":"Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease","volume":"64","author":"Almqvist","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0095","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/sj.ejhg.5200532","article-title":"Psychological consequences of predictive genetic testing: a systematic review","volume":"8","author":"Broadstock","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0100","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1093\/eurheartj\/ehq111","article-title":"Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy","volume":"31","author":"Maron","year":"2010","journal-title":"Eur Heart J"},{"key":"10.1016\/j.hlc.2011.07.013_bib0105","unstructured":"Human Genetics Society of Australia. Pre-symptomatic and predictive testing in children and young people, version 2; 2008 http:\/\/www.hgsa.org.au."},{"key":"10.1016\/j.hlc.2011.07.013_bib0110","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.hlc.2006.10.018","article-title":"Guidelines for the diagnosis and management of familial dilated cardiomyopathy","volume":"16","author":"Fatkin","year":"2007","journal-title":"Heart Lung Circ"},{"key":"10.1016\/j.hlc.2011.07.013_bib0115","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1016\/j.jacc.2008.08.055","article-title":"Bethesda Conference #36 and the European Society of Cardiology Consensus Recommendations revisited a comparison of U.S. and European criteria for eligibility and disqualification of competitive athletes with cardiovascular abnormalities","volume":"52","author":"Pelliccia","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hlc.2011.07.013_bib0120","doi-asserted-by":"crossref","first-page":"3027","DOI":"10.1001\/jama.294.23.2975","article-title":"Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice","volume":"294","author":"Napolitano","year":"2005","journal-title":"JAMA"},{"key":"10.1016\/j.hlc.2011.07.013_bib0125","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1161\/01.CIR.0000020013.73106.D8","article-title":"Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia","volume":"106","author":"Priori","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.hlc.2011.07.013_bib0130","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1161\/CIRCEP.108.782888","article-title":"Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing","volume":"2","author":"Bai","year":"2009","journal-title":"Circ Arrhyth Electrophysiol"},{"key":"10.1016\/j.hlc.2011.07.013_bib0135","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1161\/hc1102.105288","article-title":"Natural history of Brugada syndrome: insights for risk stratification and management","volume":"105","author":"Bloise","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.hlc.2011.07.013_bib0140","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.1399-0004.2009.01356.x","article-title":"Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project","volume":"77","author":"Taylor","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.hlc.2011.07.013_bib0145","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hlc.2011.07.013_bib0150","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1002\/ajmg.a.32918","article-title":"Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes","volume":"149A","author":"Chung","year":"2009","journal-title":"Am J Med Genet"}],"updated-by":[{"DOI":"10.1016\/j.hlc.2011.10.007","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000}}],"container-title":["Heart, Lung and Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1443950611010511?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1443950611010511?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,6,10]],"date-time":"2023-06-10T10:16:44Z","timestamp":1686392204000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1443950611010511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":30,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S1443950611010511"],"URL":"https:\/\/doi.org\/10.1016\/j.hlc.2011.07.013","relation":{},"ISSN":["1443-9506"],"issn-type":[{"value":"1443-9506","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}