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

  • Perry Elliott
  • , Heribert Schunkert
  • , Antoine Bondue
  • , Elijah Behr
  • , Lucie Carrier
  • , Cornelia Van Duijn
  • , Pablo García-Pavía
  • , Pim van der Harst
  • , Maryam Kavousi
  • , Bart Loeys
  • , Luis Rocha Lopes
  • , Yigal Pinto
  • , Alessandro Di Toro
  • , Thomas Thum
  • , Stefan Kääb
  • , Mario Urtis
  • , Eloisa Arbustini*
  • *Corresponding author for this work
  • Barts Health NHS Trust
  • University College London
  • Technical University of Munich
  • German Centre for Cardiovascular Research
  • Université libre de Bruxelles
  • City St George's, University of London
  • University Medical Center Hamburg-Eppendorf
  • University of Oxford
  • University Hospital Puerta de Hierro-Majadahonda
  • Utrecht University
  • Antwerp University Hospital
  • Radboud University Medical Center
  • Amsterdam UMC
  • IRCCS Fondazione Policlinico San Matteo - Pavia
  • Hannover Medical School
  • Fraunhofer Institute for Toxicology and Experimental Medicine
  • Klinikum der Universität München

Research output: Contribution to journalArticleAcademicpeer-review

32 Citations (Scopus)
98 Downloads (Pure)

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.

Original languageEnglish
Pages (from-to)344-353
Number of pages10
JournalEuropean Heart Journal
Volume46
Issue number4
DOIs
Publication statusPublished - 21 Jan 2025

Bibliographical note

Publisher Copyright:
© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved.

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