{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T02:56:28Z","timestamp":1784602588683,"version":"3.55.0"},"reference-count":88,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:00:00Z","timestamp":1655337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sports Cardiology practice commonly involves the evaluation of athletes for genetically determined cardiac conditions that may predispose to malignant arrhythmias, heart failure, and sudden cardiac death. High-level exercise can lead to electrical and structural cardiac remodelling which mimics inherited cardiac conditions (ICCs). Differentiation between \u2018athlete\u2019s heart\u2019 and pathology can be challenging and often requires the whole armamentarium of available investigations. Genetic studies over the last 30 years have identified many of the genetic variants that underpin ICCs and technological advances have transformed genetic testing to a more readily available and affordable clinical tool which may aid diagnosis, management, and prognosis. The role of genetic testing in the evaluation and management of athletes with suspected cardiac conditions is often unclear beyond the context of specialist cardio-genetics centres. This document is aimed at physicians, nurses, and allied health professionals involved in the athlete\u2019s care. With the expanding role and availability of genetic testing in mind, this document was created to address the needs of the broader sports cardiology community, most of whom work outside specialized cardio-genetics centres, when faced with the evaluation and management of athletes with suspected ICC. The first part of the document provides an overview of basic terminology and principles and offers guidance on the appropriate use of genetic testing in the assessment of such athletes. It outlines key considerations when contemplating genetic testing, highlighting the potential benefits and pitfalls, and offers a roadmap to genetic testing. The second part of the document presents common clinical scenarios in Sports Cardiology practice, outlining the diagnostic, prognostic, and therapeutic implications of genetic testing, including impact on exercise recommendations. The scope of this document does not extend to a comprehensive description of the genetic basis, investigation, or management of ICCs.<\/jats:p>","DOI":"10.1093\/eurjpc\/zwac080","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T11:17:34Z","timestamp":1650539854000},"page":"1582-1591","source":"Crossref","is-referenced-by-count":22,"title":["Indications and utility of cardiac genetic testing in athletes"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9693-4083","authenticated-orcid":false,"given":"Silvia","family":"Castelletti","sequence":"first","affiliation":[{"name":"IRCCS Istituto Auxologico Italiano, Cardiology Department , Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9966-0329","authenticated-orcid":false,"given":"Belinda","family":"Gray","sequence":"additional","affiliation":[{"name":"Cardiovascular Clinical Academic Group and Cardiology Research Centre, Institute of Molecular and Clinical Sciences, St George\u2019s, University of London and St George\u2019s University Hospitals NHS Foundation Trust , London ,","place":["UK"]},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW ,","place":["Australia"]},{"name":"Department of Cardiology, Royal Prince Alfred Hospital , Sydney, NSW ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0195-9753","authenticated-orcid":false,"given":"Cristina","family":"Basso","sequence":"additional","affiliation":[{"name":"Cardiovascular Pathology Unit, Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua , Padua ,","place":["Italy"]},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8731-2853","authenticated-orcid":false,"given":"Elijah R","family":"Behr","sequence":"additional","affiliation":[{"name":"Cardiovascular Clinical Academic Group and Cardiology Research Centre, Institute of Molecular and Clinical Sciences, St George\u2019s, University of London and St George\u2019s University Hospitals NHS Foundation Trust , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8739-6527","authenticated-orcid":false,"given":"Lia","family":"Crotti","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Auxologico Italiano, Cardiology Department , Milan ,","place":["Italy"]},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Amsterdam ,","place":["The Netherlands"]},{"name":"Department of Medicine and Surgery, University of Milano-Bicocca , Milano ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-3984","authenticated-orcid":false,"given":"Perry M","family":"Elliott","sequence":"additional","affiliation":[{"name":"Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4289-049X","authenticated-orcid":false,"given":"Cecilia M","family":"Gonzalez Corcia","sequence":"additional","affiliation":[{"name":"Department of Sports Cardiology and Screening, Aspetar Sports Medicine Hospital , Doha ,","place":["Qatar"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0947-6836","authenticated-orcid":false,"given":"Flavio","family":"D\u2019Ascenzi","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medical Biotechnologies, University of Siena , Siena ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4846-7676","authenticated-orcid":false,"given":"Jodie","family":"Ingles","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW ,","place":["Australia"]},{"name":"Department of Cardiology, Royal Prince Alfred Hospital , Sydney, NSW ,","place":["Australia"]},{"name":"Centenary Institute, The University of Sydney , Sydney ,","place":["Australia"]},{"name":"Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney , Sydney ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3703-9518","authenticated-orcid":false,"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Radboud University Medical Center , Nijmegen ,","place":["The Netherlands"]},{"name":"Center for Medical Genetics, Antwerp University Hospital & University of Antwerp , Antwerp ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonis","family":"Pantazis","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Service, Royal Brompton Hospital , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido E","family":"Pieles","sequence":"additional","affiliation":[{"name":"National Institute for Health Research (NIHR) Cardiovascular Biomedical Research Centre, Congenital Heart Unit, Bristol Heart Institute , Bristol ,","place":["UK"]},{"name":"Institute of Sport, Exercise and Health, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Saenen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital , Antwerp ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6857-8904","authenticated-orcid":false,"given":"Georgia","family":"Sarquella Brugada","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Amsterdam ,","place":["The Netherlands"]},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Barcelona. Science Department, Medical School, Universitat de Girona , Girona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3199-9577","authenticated-orcid":false,"given":"Maria","family":"Sanz de la Garza","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute, Hospital Cl\u00ednic, Institut d'Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS) , Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3630-6138","authenticated-orcid":false,"given":"Sanjay","family":"Sharma","sequence":"additional","affiliation":[{"name":"Cardiovascular Clinical Academic Group and Cardiology Research Centre, Institute of Molecular and Clinical Sciences, St George\u2019s, University of London and St George\u2019s University Hospitals NHS Foundation Trust , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7686-2668","authenticated-orcid":false,"given":"Emeline M","family":"Van Craenebroek","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital , Antwerp ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0528-0852","authenticated-orcid":false,"given":"Arthur","family":"Wilde","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Amsterdam ,","place":["The Netherlands"]},{"name":"Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Center , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0616-2353","authenticated-orcid":false,"given":"Michael","family":"Papadakis","sequence":"additional","affiliation":[{"name":"Cardiovascular Clinical Academic Group and Cardiology Research Centre, Institute of Molecular and Clinical Sciences, St George\u2019s, University of London and St George\u2019s University Hospitals NHS Foundation Trust , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,6,16]]},"reference":[{"key":"2024120319343413200_zwac080-B1","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1093\/eurheartj\/ehx532","article-title":"European Association of Preventive Cardiology (EAPC) and European Association of Cardiovascular Imaging (EACVI) joint position statement: recommendations for the indication and interpretation of cardiovascular imaging in the evaluation of the athlete\u2019s heart","volume":"39","author":"Pelliccia","year":"2018","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B2","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1093\/ehjci\/jey050","article-title":"Exercise cardiac magnetic resonance to differentiate athlete\u2019s heart from structural heart disease","volume":"19","author":"Claessen","year":"2018","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"2024120319343413200_zwac080-B3","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1136\/heartjnl-2019-316147","article-title":"Differentiation between athlete\u2019s heart and dilated cardiomyopathy in athletic individuals","volume":"106","author":"Millar","year":"2020","journal-title":"Heart"},{"key":"2024120319343413200_zwac080-B4","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1016\/j.jacep.2018.09.008","article-title":"Electrocardiographic features differentiating arrhythmogenic right ventricular cardiomyopathy from an athlete\u2019s heart","volume":"4","author":"Brosnan","year":"2018","journal-title":"JACC Clin Electrophysiol"},{"key":"2024120319343413200_zwac080-B5","doi-asserted-by":"crossref","first-page":"80","DOI":"10.15420\/ecr.2017:12:1","article-title":"Hypertrophic cardiomyopathy in athletes","volume":"12","author":"Malhotra","year":"2017","journal-title":"Eur Cardiol"},{"key":"2024120319343413200_zwac080-B6","first-page":"1","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":"00","author":"Wilde","year":"2022","journal-title":"Europace"},{"key":"2024120319343413200_zwac080-B7","author":"Gray","year":"2019","journal-title":"Textbook of Sports Cardiology"},{"key":"2024120319343413200_zwac080-B8","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","volume":"10","author":"Priori","year":"2013","journal-title":"Heart Rhythm"},{"key":"2024120319343413200_zwac080-B9","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.cjca.2010.12.078","article-title":"Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society\/Canadian Heart Rhythm Society joint position paper","volume":"27","author":"Gollob","year":"2011","journal-title":"Can J Cardiol"},{"key":"2024120319343413200_zwac080-B10","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1093\/eurheartj\/ehq271","article-title":"Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"31","author":"Charron","year":"2010","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B11","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1093\/eurheartj\/ehv122","article-title":"The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics","volume":"36","author":"Mogensen","year":"2015","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B12","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1038\/s41431-019-0445-y","article-title":"European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death","volume":"27","author":"Fellmann","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"2024120319343413200_zwac080-B13","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s00428-017-2221-0","article-title":"Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology","volume":"471","author":"Basso","year":"2017","journal-title":"Virchows Arch"},{"key":"2024120319343413200_zwac080-B14","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1056\/NEJM199910073411504","article-title":"Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning","volume":"341","author":"Ackerman","year":"1999","journal-title":"N Engl J Med"},{"key":"2024120319343413200_zwac080-B15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/00000433-200106000-00001","article-title":"Molecular autopsy of sudden unexplained death in the young","volume":"22","author":"Ackerman","year":"2001","journal-title":"Am J Forensic Med Pathol"},{"key":"2024120319343413200_zwac080-B16","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.hrthm.2020.10.010","article-title":"2020 APHRS\/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families","volume":"18","author":"Stiles","year":"2021","journal-title":"Heart Rhythm"},{"key":"2024120319343413200_zwac080-B17","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1016\/j.jacc.2017.02.046","article-title":"Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome","volume":"69","author":"Lahrouchi","year":"2017","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B18","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cell.2013.09.006","article-title":"The next-generation sequencing revolution and its impact on genomics.","volume":"155","author":"Koboldt","year":"2013","journal-title":"Cell"},{"key":"2024120319343413200_zwac080-B19","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1161\/CIRCULATIONAHA.112.001216","article-title":"Calmodulin mutations associated with recurrent cardiac arrest in infants","volume":"127","author":"Crotti","year":"2013","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B20","doi-asserted-by":"crossref","first-page":"e001605","DOI":"10.1161\/CIRCGENETICS.116.001605","article-title":"Identification of Cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy","volume":"10","author":"Mayosi","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"2024120319343413200_zwac080-B21","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":"2024120319343413200_zwac080-B22","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2024120319343413200_zwac080-B23","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/clc.23289","article-title":"Utility of genetic testing in athletes","volume":"43","author":"Gray","year":"2020","journal-title":"Clin Cardiol"},{"key":"2024120319343413200_zwac080-B24","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1093\/eurheartj\/ehaa605","article-title":"2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease","volume":"42","author":"Pelliccia","year":"2020","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B25","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1161\/CIRCULATIONAHA.108.804617","article-title":"Sudden deaths in young competitive athletes analysis of 1866 deaths in the United States, 1980-2006","volume":"119","author":"Maron","year":"2009","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B26","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1001\/jama.296.13.1593","article-title":"Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program","volume":"296","author":"Corrado","year":"2006","journal-title":"JAMA"},{"key":"2024120319343413200_zwac080-B27","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1016\/j.jacc.2016.02.062","article-title":"Etiology of sudden death in sports: insights from a United Kingdom Regional Registry","volume":"67","author":"Finocchiaro","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B28","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1016\/j.hrthm.2018.04.019","article-title":"A 10-year review of sudden death during sporting activities","volume":"15","author":"Dennis","year":"2018","journal-title":"Heart Rhythm"},{"key":"2024120319343413200_zwac080-B29","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1093\/eurheartj\/ehw631","article-title":"International recommendations for electrocardiographic interpretation in athletes","volume":"39","author":"Sharma","year":"2018","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B30","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.1161\/CIRCULATIONAHA.120.048916","article-title":"Exercise training-induced repolarization abnormalities masquerading as congenital long QT syndrome","volume":"142","author":"Dagradi","year":"2020","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B31","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1093\/europace\/euaa106","article-title":"Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part 2: ventricular arrhythmias, channelopathies, and implantable defibrillators","volume":"23","author":"Heidbuchel","year":"2020","journal-title":"Europace"},{"key":"2024120319343413200_zwac080-B32","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"},{"key":"2024120319343413200_zwac080-B33","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1161\/CIRCULATIONAHA.119.043132","article-title":"An international, multicentered, an international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome","volume":"141","author":"Adler","year":"2020","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B34","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"},{"key":"2024120319343413200_zwac080-B35","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1002\/humu.23645","article-title":"ClinGen variant curation expert panel experiences and standardized processes for disease and gene-level specification of the ACMG\/AMP guidelines for sequence variant interpretation","volume":"39","author":"Rivera-Mu\u00f1oz","year":"2018","journal-title":"Hum Mutat"},{"key":"2024120319343413200_zwac080-B36","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/gim.2017.218","article-title":"Adaptation and validation of the ACMG\/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen\u2019s inherited cardiomyopathy expert panel","volume":"20","author":"Kelly","year":"2018","journal-title":"Genet Med"},{"key":"2024120319343413200_zwac080-B37","doi-asserted-by":"crossref","first-page":"e001700","DOI":"10.1161\/CIRCGENETICS.116.001700","article-title":"Care in specialized centers and data sharing increase agreement in hypertrophic cardiomyopathy genetic test interpretation","volume":"10","author":"Furqan","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"2024120319343413200_zwac080-B38","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/gim.2013.138","article-title":"Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment","volume":"16","author":"Das K","year":"2014","journal-title":"Genet Med"},{"key":"2024120319343413200_zwac080-B39","doi-asserted-by":"crossref","first-page":"e000488","DOI":"10.1136\/openhrt-2016-000488","article-title":"Exercise restrictions trigger psychological difficulty in active and athletic adults with hypertrophic cardiomyopathy","volume":"3","author":"Luiten","year":"2016","journal-title":"Open Heart"},{"key":"2024120319343413200_zwac080-B40","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10897-018-0297-6","article-title":"Evolving decisions: perspectives of active and athletic individuals with inherited heart disease who exercise against recommendations","volume":"28","author":"Subas","year":"2018","journal-title":"J Genet Couns"},{"key":"2024120319343413200_zwac080-B41","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.jelectrocard.2014.12.018","article-title":"Stages of psychological impact after diagnosis with serious or potentially lethal cardiac disease in young competitive athletes: a new model","volume":"48","author":"Asif","year":"2015","journal-title":"J Electrocardiol"},{"key":"2024120319343413200_zwac080-B42","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1016\/j.hrthm.2011.07.017","article-title":"The emerging role of the cardiac genetic counselor","volume":"8","author":"Ingles","year":"2011","journal-title":"Heart Rhythm"},{"key":"2024120319343413200_zwac080-B43","doi-asserted-by":"crossref","first-page":"a036558","DOI":"10.1101\/cshperspect.a036558","article-title":"Psychological issues in managing families with inherited cardiovascular diseases","volume":"10","author":"Ingles","year":"2020","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2024120319343413200_zwac080-B44","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1001\/jamainternmed.2015.7808","article-title":"Posttraumatic stress and prolonged grief after the sudden cardiac death of a young relative","volume":"176","author":"Ingles","year":"2016","journal-title":"JAMA Intern Med"},{"key":"2024120319343413200_zwac080-B45","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1016\/j.jacc.2013.06.033","article-title":"Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia\/cardiomyopathy-associated desmosomal mutation carriers","volume":"62","author":"James","year":"2013","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B46","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/1477-7525-9-100","article-title":"General anxiety, depression, and physical health in relation to symptoms of heart-focused anxiety- a cross sectional study among patients living with the risk of serious arrhythmias and sudden cardiac death","volume":"9","author":"Hamang","year":"2011","journal-title":"Health Qual Life Outcomes"},{"key":"2024120319343413200_zwac080-B47","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1001\/jama.2012.9334","article-title":"Competitive sports participation in athletes with congenital long QT syndrome","volume":"308","author":"Johnson","year":"2012","journal-title":"JAMA"},{"key":"2024120319343413200_zwac080-B48","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/bjsports-2012-091751","article-title":"Return to play? Athletes with congenital long QT syndrome","volume":"47","author":"Johnson","year":"2013","journal-title":"Br J Sports Med"},{"key":"2024120319343413200_zwac080-B49","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.jacc.2021.04.026","article-title":"Return-to-play for athletes with long QT syndrome or genetic heart diseases predisposing to sudden death","volume":"78","author":"Tobert","year":"2021","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B50","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1017\/S1047951112001138","article-title":"Genetics of sudden cardiac death in children and young athletes","volume":"23","author":"Sarquella-Brugada","year":"2013","journal-title":"Cardiol Young"},{"key":"2024120319343413200_zwac080-B51","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 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":"Authors\/Task Force members","year":"2014","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B52","doi-asserted-by":"crossref","first-page":"2350","DOI":"10.1016\/j.jacc.2015.09.033","article-title":"Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task force 1: Classification of Sports: Dynamic, static, and impact: a scientific statement from the American Heart Association and American College of Cardiology","volume":"66","author":"Levine","year":"2015","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B53","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1093\/eurheartj\/ehy730","article-title":"Recommendations for participation in competitive and leisure time sport in athletes with cardiomyopathies, myocarditis, and pericarditis: position statement of the Sport Cardiology Section of the European Association of Preventive Cardiology (EAPC)","volume":"40","author":"Pelliccia","year":"2019","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B54","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/S0140-6736(97)06486-6","article-title":"Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study","volume":"351","author":"Burn","year":"1998","journal-title":"Lancet"},{"key":"2024120319343413200_zwac080-B55","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1016\/j.jacc.2003.05.004","article-title":"NKX2.5 mutations in patients with congenital heart disease","volume":"42","author":"McElhinney","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B56","doi-asserted-by":"crossref","first-page":"e003454","DOI":"10.1161\/CIRCIMAGING.114.003454","article-title":"Clinical profile of athletes with hypertrophic cardiomyopathy","volume":"8","author":"Sheikh","year":"2015","journal-title":"Circ Cardiovasc Imaging"},{"key":"2024120319343413200_zwac080-B57","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1056\/NEJM199101313240504","article-title":"The upper limit of physiologic cardiac hypertrophy in highly trained elite athletes","volume":"324","author":"Pelliccia","year":"1991","journal-title":"N Engl J Med"},{"key":"2024120319343413200_zwac080-B58","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1093\/eurheartj\/ehp164","article-title":"Prevalence and significance of T-wave inversions in predominantly Caucasian adolescent athletes","volume":"30","author":"Papadakis","year":"2009","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B59","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1093\/eurheartj\/ehr140","article-title":"The prevalence, distribution, and clinical outcomes of electrocardiographic repolarization patterns in male athletes of African\/Afro-Caribbean origin","volume":"32","author":"Papadakis","year":"2011","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B60","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1161\/CIRCULATIONAHA.118.034208","article-title":"Diagnostic yield of genetic testing in young athletes with T-wave inversion","volume":"138","author":"Sheikh","year":"2018","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B61","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 Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B62","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1016\/j.jacc.2010.09.084","article-title":"SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism","volume":"57","author":"McNair","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B63","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies","volume":"68","author":"Ortiz-Genga","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B64","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ijcard.2017.05.018","article-title":"Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: genotype-phenotype correlation","volume":"249","author":"Castelletti","year":"2017","journal-title":"Int J Cardiol"},{"key":"2024120319343413200_zwac080-B65","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","article-title":"Evidence-based assessment of genes in dilated cardiomyopathy","volume":"144","author":"Jordan","year":"2021","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B66","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1161\/CIRCULATIONAHA.117.031947","article-title":"RBM20 mutations induce an arrhythmogenic dilated cardiomyopathy related to disturbed calcium handling","volume":"138","author":"van den Hoogenhof","year":"2018","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B67","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/j.jacc.2008.06.044","article-title":"Long-term outcome and risk stratification in dilated cardiolaminopathies","volume":"52","author":"Pasotti","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B68","doi-asserted-by":"crossref","first-page":"7207","DOI":"10.1093\/hmg\/ddv421","article-title":"Myofibrillar instability exacerbated by acute exercise in filaminopathy","volume":"24","author":"Chevessier","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2024120319343413200_zwac080-B69","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ijcard.2020.06.005","article-title":"Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria","volume":"319","author":"Corrado","year":"2020","journal-title":"Int J Cardiol"},{"key":"2024120319343413200_zwac080-B70","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1093\/eurheartj\/ehv727","article-title":"Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases","volume":"37","author":"Pinto","year":"2016","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B71","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1056\/NEJMoa022147","article-title":"Risk stratification in the long-QT syndrome","volume":"348","author":"Priori","year":"2003","journal-title":"N Engl J Med"},{"key":"2024120319343413200_zwac080-B72","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1016\/j.jacc.2012.07.046","article-title":"Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2","volume":"60","author":"Chockalingam","year":"2012","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B73","doi-asserted-by":"crossref","first-page":"3109","DOI":"10.1093\/eurheartj\/eht089","article-title":"The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy","volume":"34","author":"Schwartz","year":"2013","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B74","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1161\/01.CIR.99.4.529","article-title":"Low penetrance in the long-QT syndrome: clinical impact","volume":"99","author":"Priori","year":"1999","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B75","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.jacc.2010.07.038","article-title":"Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals","volume":"57","author":"Goldenberg","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B76","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/sms.12679","article-title":"The prevalence and clinical significance of premature ventricular beats in the athlete","volume":"27","author":"D'Ascenzi","year":"2017","journal-title":"Scand J Med Sci Sports"},{"key":"2024120319343413200_zwac080-B77","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1136\/bjsports-2018-100529","article-title":"How to evaluate premature ventricular beats in the athlete: critical review and proposal of a diagnostic algorithm","volume":"54","author":"Corrado","year":"2020","journal-title":"Br J Sports Med"},{"key":"2024120319343413200_zwac080-B78","first-page":"622","article-title":"Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy","volume":"19","author":"Novak","year":"2016","journal-title":"Europace"},{"key":"2024120319343413200_zwac080-B79","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.hrthm.2020.01.035","article-title":"Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5","volume":"17","author":"Dominguez","year":"2020","journal-title":"Heart Rhythm"},{"key":"2024120319343413200_zwac080-B80","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/ejhf.1384","article-title":"External validation of risk factors for malignant ventricular arrhythmias in lamin A\/C mutation carriers","volume":"21","author":"Thuillot","year":"2019","journal-title":"Eur J Heart Fail"},{"key":"2024120319343413200_zwac080-B81","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1177\/2047487320928654","article-title":"Prescribing, dosing and titrating exercise in patients with hypertrophic cardiomyopathy for prevention of comorbidities: ready for prime time","volume":"28","author":"Cavigli","year":"2021","journal-title":"Eur J Prev Cardiol"},{"key":"2024120319343413200_zwac080-B82","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0196-0644(03)00818-7","article-title":"Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families","volume":"43","author":"Hasham","year":"2004","journal-title":"Ann Emerg Med"},{"key":"2024120319343413200_zwac080-B83","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1093\/eurheartj\/ehu281","article-title":"2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The task force for the diagnosis and treatment of aortic diseases of the European Society of Cardiology (ESC)","volume":"35","author":"Erbel","year":"2014","journal-title":"Eur Heart J"},{"key":"2024120319343413200_zwac080-B84","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nrcardio.2016.211","article-title":"Aetiology and management of hereditary aortopathy","volume":"14","author":"Verstraeten","year":"2017","journal-title":"Nat Rev Cardiol"},{"key":"2024120319343413200_zwac080-B85","doi-asserted-by":"crossref","first-page":"2728","DOI":"10.1016\/j.jacc.2017.09.1094","article-title":"Heritable thoracic aortic disease genes in sporadic aortic dissection","volume":"70","author":"Guo","year":"2017","journal-title":"J Am Coll Cardiol"},{"key":"2024120319343413200_zwac080-B86","doi-asserted-by":"crossref","first-page":"182","DOI":"10.3390\/biom10020182","article-title":"The genetics of thoracic aortic aneurysms and dissection: a clinical perspective","volume":"10","author":"Ostberg","year":"2020","journal-title":"Biomolecules"},{"key":"2024120319343413200_zwac080-B87","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1161\/CIRCULATIONAHA.112.000974","article-title":"A meta-analysis of aortic root size in elite athletes","volume":"127","author":"Iskandar","year":"2013","journal-title":"Circulation"},{"key":"2024120319343413200_zwac080-B88","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1161\/CIRCULATIONAHA.109.901074","article-title":"Prevalence and clinical significance of aortic root dilation in highly trained competitive athletes","volume":"122","author":"Pelliccia","year":"2010","journal-title":"Circulation"}],"container-title":["European Journal of Preventive Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/eurjpc\/article-pdf\/29\/12\/1582\/60914199\/zwac080.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjpc\/article-pdf\/29\/12\/1582\/60914199\/zwac080.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T19:35:11Z","timestamp":1733254511000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eurjpc\/article\/29\/12\/1582\/6596972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,16]]},"references-count":88,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,6,16]]},"published-print":{"date-parts":[[2022,9,7]]}},"URL":"https:\/\/doi.org\/10.1093\/eurjpc\/zwac080","relation":{},"ISSN":["2047-4873","2047-4881"],"issn-type":[{"value":"2047-4873","type":"print"},{"value":"2047-4881","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,9,1]]},"published":{"date-parts":[[2022,6,16]]}}}