Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics

Perry Elliott^{1

2}, Heribert Schunkert^{3

4}, Antoine Bondue⁵, Elijah Behr⁶, Lucie Carrier^{7

8}, Cornelia Van Duijn⁹, Pablo García-Pavía¹⁰, Pim van der Harst¹¹, Maryam Kavousi¹², Bart Loeys^{13

14}, Luis Rocha Lopes^{1

2}, Yigal Pinto¹⁵, Alessandro Di Toro¹⁶, Thomas Thum^{17

18}, Stefan Kääb^{19

20}, Mario Urtis¹⁶, Eloisa Arbustini¹⁶

Affiliations

¹ Department of Inherited Cardiovascular Conditions, Barts Heart Centre, St Bartholomew's Hospital, London, UK.
² Institute for Cardiovascular Science, University College London, London, United Kingdom.
³ Department of Cardiology, Deutsches Herzzentrum München, Technische Universität München, Munich, Germany.
⁴ Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK), Munich Heart Alliance, Munich, Germany.
⁵ Department of Cardiology, Cliniques Universitaires de Bruxelles, Hôpital Académique Erasme, Brussels, Belgium.
⁶ Cardiology Research Centre and Cardiovascular Academic Group, Institute of Molecular and Clinical Sciences, St George's, University of London and St George's University Hospitals NHS Foundation Trust, London, UK.
⁷ Institute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁸ DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.
⁹ Nuffield Department of Population Health, University of Oxford, Oxford, UK.
¹⁰ Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain.
¹¹ Division of Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
¹² Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
¹³ Cardiogenomics, Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
¹⁴ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
¹⁵ Department of Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands.
¹⁶ Department of Research, Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
¹⁷ Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany.
¹⁸ Fraunhofer Institute of Toxicology and Experimental Medicine (ITEM), Hannover, Germany.
¹⁹ Medizinische Klinik und Poliklinik I, LMU University Hospital Munich, Munich, Germany.
²⁰ German Center for Cardiovascular Research, Munich Heart Alliance, Munich, Germany.

PMID: 39673718
DOI: 10.1093/eurheartj/ehae747

Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics

Perry Elliott et al. Eur Heart J. 2025.

. 2025 Jan 21;46(4):344-353.

doi: 10.1093/eurheartj/ehae747.

Authors

Affiliations

¹ Department of Inherited Cardiovascular Conditions, Barts Heart Centre, St Bartholomew's Hospital, London, UK.
² Institute for Cardiovascular Science, University College London, London, United Kingdom.
³ Department of Cardiology, Deutsches Herzzentrum München, Technische Universität München, Munich, Germany.
⁴ Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK), Munich Heart Alliance, Munich, Germany.
⁵ Department of Cardiology, Cliniques Universitaires de Bruxelles, Hôpital Académique Erasme, Brussels, Belgium.
⁶ Cardiology Research Centre and Cardiovascular Academic Group, Institute of Molecular and Clinical Sciences, St George's, University of London and St George's University Hospitals NHS Foundation Trust, London, UK.
⁷ Institute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁸ DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.
⁹ Nuffield Department of Population Health, University of Oxford, Oxford, UK.
¹⁰ Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain.
¹¹ Division of Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
¹² Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
¹³ Cardiogenomics, Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
¹⁴ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
¹⁵ Department of Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands.
¹⁶ Department of Research, Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
¹⁷ Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany.
¹⁸ Fraunhofer Institute of Toxicology and Experimental Medicine (ITEM), Hannover, Germany.
¹⁹ Medizinische Klinik und Poliklinik I, LMU University Hospital Munich, Munich, Germany.
²⁰ German Center for Cardiovascular Research, Munich Heart Alliance, Munich, Germany.

PMID: 39673718
DOI: 10.1093/eurheartj/ehae747

Abstract

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

Keywords: Cardiomyopathies; genetic testing.

© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.

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Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics

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Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics

Authors

Affiliations

Abstract

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LinkOut - more resources

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Medical