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 R. Behr, Lucie Carrier, Cornelia M. van Duijn, Pablo García‐Pavía, Pim van der Harst, Maryam Kavousi, Bart Loeys, Luís R. Lopes, Yigal M. Pinto, Alessandro Di Toro, Thomas Thum, Stefan Kääb, Mario Urtis, Eloisa Arbustini
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.