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

European Heart Journal

3 December 2024
Organised by: Logo
ESC Journals OTHER European Society of Cardiology

Abstract

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.

Contributors

Perry Elliott
Perry Elliott

Author

University College London London , United Kingdom of Great Britain & Northern Ireland

Heribert Schunkert
Heribert Schunkert

Author

German Heart Center of Munich Munich , Germany

Antoine Bondue
Antoine Bondue

Author

Free University of Brussels (ULB) Brussels , Belgium

Elijah Behr
Elijah Behr

Author

City St George's University of London London , United Kingdom of Great Britain & Northern Ireland

Cornelia Van Duijn
Cornelia Van Duijn

Author

University of Oxford Oxford , United Kingdom of Great Britain & Northern Ireland

Pim van der Harst
Pim van der Harst

Author

University Medical Centre Groningen Groningen , Netherlands (The)

Maryam Kavousi
Maryam Kavousi

Author

Erasmus University Medical Centre Rotterdam , Netherlands (The)

Bart Loeys
Bart Loeys

Author

Antwerp University Hospital Edegem , Belgium

Stefan Kääb
Stefan Kääb

Author

Ludwig Maximilians University Hospital Munich , Germany

Eloisa Arbustini
Eloisa Arbustini

Author

Foundation IRCCS Policlinic San Matteo - University of Pavia Pavia , Italy