Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

doi:10.1093/eurheartj/ehab895

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Article

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

European heart journal - 21 May 2022

Arbustini Eloisa, Behr Elijah R, Carrier Lucie, van Duijn Cornelia, Evans Paul, Favalli Valentina, van der Harst Pim, Haugaa Kristina Hermann, Jondeau Guillaume, Kääb Stefan, Kaski Juan Pablo, Kavousi Maryam, Loeys Bart, Pantazis Antonis, Pinto Yigal, Schunkert Heribert, Di Toro Alessandro, Thum Thomas, Urtis Mario, Waltenberger Johannes, Elliott Perry

Abstract excerpt

This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic...

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PMID: 35089333
DOI: 10.1093/eurheartj/ehab895

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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