Indications and utility of cardiac genetic testing in athletes
| Autor: | Silvia, Castelletti, Belinda, Gray, Cristina, Basso, Elijah R, Behr, Lia, Crotti, Perry M, Elliott, Cecilia M, Gonzalez Corcia, Flavio, D'Ascenzi, Jodie, Ingles, Bart, Loeys, Antonis, Pantazis, Guido E, Pieles, Johan, Saenen, Georgia, Sarquella Brugada, Maria, Sanz de la Garza, Sanjay, Sharma, Emeline M, Van Craenebroek, Arthur, Wilde, Michael, Papadakis |
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| Přispěvatelé: | Cardiology, ACS - Heart failure & arrhythmias, Castelletti, S, Gray, B, Basso, C, R Behr, E, Crotti, L, M Elliott, P, M Gonzalez Corcia, C, D'Ascenzi, F, Ingles, J, Loeys, B, Pantazis, A, E Pieles, G, Saenen, J, Sarquella Brugada, G, Sanz de la Garza, M, Sharma, S, M Van Craenebroek, E, Wilde, A, Papadakis, M |
| Rok vydání: | 2022 |
| Předmět: |
Introduction
Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] Genetic testing Inherited cardiac condition Epidemiology Athletes Cardiomyopathies Channelopathies Inherited cardiac conditions Sudden cardiac death Channelopathie All institutes and research themes of the Radboud University Medical Center Death Sudden Cardiac Athlete Humans Human medicine Cardiomegaly Exercise-Induced Cardiology and Cardiovascular Medicine Cardiomyopathie Sports |
| Zdroj: | European Journal of Preventive Cardiology, 29, 1582-1591 European journal of preventive cardiology, 29(12), 1582-1591. SAGE Publications Ltd European journal of preventive cardiology European Journal of Preventive Cardiology, 29, 12, pp. 1582-1591 |
| ISSN: | 2047-4873 2047-4881 |
| Popis: | 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 'athlete's heart' 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's 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. |
| Databáze: | OpenAIRE |
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