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

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, 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

Epidemiology

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

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 language	English
Pages (from-to)	344-353
Number of pages	10
Journal	European Heart Journal
Volume	46
Issue number	4
DOIs	https://doi.org/10.1093/eurheartj/ehae747
Publication status	Published - 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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Elliott, P., Schunkert, H., Bondue, A., Behr, E., Carrier, L., Van Duijn, C., García-Pavía, P., van der Harst, P., Kavousi, M., Loeys, B., Rocha Lopes, L., Pinto, Y., Di Toro, A., Thum, T., Kääb, S., Urtis, M., & Arbustini, E. (2025). Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics. European Heart Journal, 46(4), 344-353. https://doi.org/10.1093/eurheartj/ehae747

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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.",

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Elliott, P, Schunkert, H, Bondue, A, Behr, E, Carrier, L, Van Duijn, C, García-Pavía, P, van der Harst, P, Kavousi, M, Loeys, B, Rocha Lopes, L, Pinto, Y, Di Toro, A, Thum, T, Kääb, S, Urtis, M & Arbustini, E 2025, 'Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics', European Heart Journal, vol. 46, no. 4, pp. 344-353. https://doi.org/10.1093/eurheartj/ehae747

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T2 - a clinical consensus statement by the ESC Council on Cardiovascular Genomics

AU - Elliott, Perry

AU - Schunkert, Heribert

AU - Bondue, Antoine

AU - Behr, Elijah

AU - Carrier, Lucie

AU - Van Duijn, Cornelia

AU - García-Pavía, Pablo

AU - van der Harst, Pim

AU - Kavousi, Maryam

AU - Loeys, Bart

AU - Rocha Lopes, Luis

AU - Pinto, Yigal

AU - Di Toro, Alessandro

AU - Thum, Thomas

AU - Kääb, Stefan

AU - Urtis, Mario

AU - Arbustini, Eloisa

PY - 2025/1/21

Y1 - 2025/1/21

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JO - European Heart Journal

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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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