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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)
4 Downloads (Pure)

Abstract

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 testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.

Original languageEnglish
Pages (from-to)1901-1916
Number of pages16
JournalEuropean Heart Journal
Volume43
Issue number20
DOIs
Publication statusPublished - 21 May 2022

Bibliographical note

Publisher Copyright: © Crown copyright 2022.

Fingerprint

Dive into the research topics of 'Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics'. Together they form a unique fingerprint.

Cite this