Future development of arrhythmogenic risk scores in patients with heart failure and inherited dilated cardiomyopathy. A scientific statement of the Heart Failure Association of the ESC

Marta Gigli¹, Job A J Verdonschot^{2

3}, Pablo Garcia-Pavia^{4

5}, Davide Stolfo^{1

6}, Lorenzo Monserrat⁷, Sanjay Prasad^{8

9}, Andrea Mazzanti^{10

11}, Folkert W Asselbergs^{12

13

14}, Barbara Bauce¹⁵, Philippe Charron¹⁶, Dana Dawson¹⁷, Brian P Halliday^{8

9}, Luisa Mestroni¹⁸, Petar Seferovic^{19

20

21}, Upasana Tayal^{8

9}, Maria Teresa Tome Esteban²², Peter Van Tintelen²³, Stephane Heymans³, Antonis Pantazis²⁴, Marco Metra²⁵, Gianfranco Sinagra¹

Affiliations

¹ Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University Hospital of Trieste, Trieste, Italy.
² Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
³ Department of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
⁴ Department of Cardiology of Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERCV, Madrid, Spain.
⁵ Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
⁶ Department of Clinical Science and Education, Södersjukhuset; Karolinska Institute, Stockholm, Sweden.
⁷ Medical Department, Dilemma Solutions.
⁸ Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
⁹ National Heart and Lung Institute, Imperial College London, London, UK.
¹⁰ Molecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
¹¹ Department of Molecular Medicine, University of Pavia, Pavia, Italy.
¹² Department of Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
¹³ Institute of Health Informatics, University College London, London, UK.
¹⁴ The National Institute for Health Research, University College London Hospitals Biomedical Research Centre, University College London, London, UK.
¹⁵ Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
¹⁶ APHP, Cardiology and Genetics Department, Sorbonne Université, INSERM 1166, ICAN Institute for Cardiometabolism and Nutrition, Pitié-Salpêtrière Hospital, Paris, France.
¹⁷ School of Medicine and Dentistry, University of Aberdeen and Aberdeen Royal Infirmary, Aberdeen, UK.
¹⁸ Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
¹⁹ Medical Faculty University of Belgrade, Belgrade, Serbia.
²⁰ University Medical Center, Belgrade, Serbia.
²¹ Serbian Academy of Sciences and Arts, Belgrade, Serbia.
²² St George's University Hospitals NHS Foundation Trust Cardiovascular and Genomics Research Institute St George's School of Health and Medical Sciences City St George's, University of London, London, UK.
²³ Department of Genetics, University Medical Center, Utrecht, The Netherlands.
²⁴ Inherited Cardiovascular Conditions Services, The Royal Brompton and Harefield Hospitals, London, UK.
²⁵ Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia, Brescia, Italy.

PMID: 40994133
DOI: 10.1002/ejhf.70042

Future development of arrhythmogenic risk scores in patients with heart failure and inherited dilated cardiomyopathy. A scientific statement of the Heart Failure Association of the ESC

Marta Gigli et al. Eur J Heart Fail. 2025.

. 2025 Sep 24.

doi: 10.1002/ejhf.70042. Online ahead of print.

Authors

Affiliations

¹ Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University Hospital of Trieste, Trieste, Italy.
² Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
³ Department of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
⁴ Department of Cardiology of Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERCV, Madrid, Spain.
⁵ Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
⁶ Department of Clinical Science and Education, Södersjukhuset; Karolinska Institute, Stockholm, Sweden.
⁷ Medical Department, Dilemma Solutions.
⁸ Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
⁹ National Heart and Lung Institute, Imperial College London, London, UK.
¹⁰ Molecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
¹¹ Department of Molecular Medicine, University of Pavia, Pavia, Italy.
¹² Department of Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
¹³ Institute of Health Informatics, University College London, London, UK.
¹⁴ The National Institute for Health Research, University College London Hospitals Biomedical Research Centre, University College London, London, UK.
¹⁵ Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
¹⁶ APHP, Cardiology and Genetics Department, Sorbonne Université, INSERM 1166, ICAN Institute for Cardiometabolism and Nutrition, Pitié-Salpêtrière Hospital, Paris, France.
¹⁷ School of Medicine and Dentistry, University of Aberdeen and Aberdeen Royal Infirmary, Aberdeen, UK.
¹⁸ Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
¹⁹ Medical Faculty University of Belgrade, Belgrade, Serbia.
²⁰ University Medical Center, Belgrade, Serbia.
²¹ Serbian Academy of Sciences and Arts, Belgrade, Serbia.
²² St George's University Hospitals NHS Foundation Trust Cardiovascular and Genomics Research Institute St George's School of Health and Medical Sciences City St George's, University of London, London, UK.
²³ Department of Genetics, University Medical Center, Utrecht, The Netherlands.
²⁴ Inherited Cardiovascular Conditions Services, The Royal Brompton and Harefield Hospitals, London, UK.
²⁵ Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia, Brescia, Italy.

PMID: 40994133
DOI: 10.1002/ejhf.70042

Abstract

The risk of sudden cardiac death (SCD) in the general population of patients with dilated cardiomyopathy (DCM) has progressively declined with the implementation of novel medical strategies. However, still cases occur in young individuals and the challenge of risk stratification remains unsolved. Traditional criteria, including left ventricular ejection fraction, have demonstrated their profound weakness to identify subjects at high risk of SCD in this specific context. The increasing availability of genetic information has allowed identification of certain genotypes with a high arrhythmic risk that deserve a more individualized approach. Recent European guidelines recognized the contribution of genetic information in clinical decision-making. Gene-specific risk stratification tools have been developed, and in some cases externally validated, which can support clinicians in the decisions on SCD primary prevention interventions. However, they are generally based on basic variables, whereas the growing amount of knowledge on novel methods for risk prediction, and in particular the solid data on the predictive value of cardiac magnetic resonance tissue characterization (i.e. late gadolinium enhancement) are not incorporated in available scores, and more in general, are not systematically part of the clinical work-up. In this scientific statement, we summarized the current state of the art concerning the risk stratification of SCD in DCM, with particular emphasis on genetic forms, highlight the weaknesses of the available strategies and the potential actions needed for improving them. Available risk stratification tools are discussed, and methodologies that should be incorporated in future prognostication models are summarized. Lastly, a point-by-point summary of the key prerequisites for developing the future arrhythmogenic risk scores in patients with DCM is provided.

Keywords: Arrhythmias; Dilated cardiomyopathy; Genetics; Prognosis; Risk score; Sudden cardiac death.

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References

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Future development of arrhythmogenic risk scores in patients with heart failure and inherited dilated cardiomyopathy. A scientific statement of the Heart Failure Association of the ESC

Affiliations

Future development of arrhythmogenic risk scores in patients with heart failure and inherited dilated cardiomyopathy. A scientific statement of the Heart Failure Association of the ESC

Authors

Affiliations

Abstract

References

Grants and funding