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  4. Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics
 
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2025
Journal Article
Title

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

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.
Author(s)
Elliott, Perry Mark
St Bartholomew's Hospital
Schunkert, Heribert
Technische Universität München
Bondue, Antoine
Hôpital Erasme
Behr, Elijah R.
St George’s, University of London
Carrier, Lucie
Universitätsklinikum Hamburg-Eppendorf
van Duijn, Cornelia M.
University of Oxford Medical Sciences Division
Garciá-Pavía, Pablo
Hospital Universitario Puerta de Hierro Majadahonda
Van Der Harst, Pim
University Medical Center Utrecht
Kavousi, Maryam
Erasmus MC
Loeys, Bart L.
Universitair Ziekenhuis Antwerpen
Rocha-Lopes, Luís
St Bartholomew's Hospital
Pinto, Yigal Martin
Amsterdam UMC - University of Amsterdam
Di Toro, Alessandro
Fondazione IRCCS Policlinico San Matteo
Thum, Thomas
Fraunhofer-Institut für Toxikologie und Experimentelle Medizin ITEM  
Kääb, Stefan
Klinikum der Universität München
Urtis, Mario
Fondazione IRCCS Policlinico San Matteo
Arbustini, Eloisa A.
Fondazione IRCCS Policlinico San Matteo
Journal
European Heart Journal  
Open Access
DOI
10.1093/eurheartj/ehae747
Additional link
Full text
Language
English
Fraunhofer-Institut für Toxikologie und Experimentelle Medizin ITEM  
Keyword(s)
  • Cardiomyopathies

  • genetic testing

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