Verdonschot, Job AJ;
Kaski, Juan Pablo;
Asselbergs, Folkert W;
Behr, Elijah R;
Charron, Philippe;
Dawson, Dana;
Haugaa, Kristina H;
... Garcia-Pavia, Pablo; + view all
(2025)
Clinical care of family members of patients with dilated cardiomyopathy:
A clinical consensus statement of the Heart Failure Association of the European Society of Cardiology, the European Society of Cardiology Working Group on Myocardial & Pericardial Diseases, and the European Society of Cardiology Council on Cardiovascular Genomics.
European Heart Journal
, Article ehaf571. 10.1093/eurheartj/ehaf571.
(In press).
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Abstract
Genetic family screening following the detection of a pathogenic or likely pathogenic variant in a proband with dilated cardiomyopathy (DCM) remains one of the main applications of genetic testing. While cardiac screening is recommended for all first-degree relatives, the a priori risk among family members varies. Consequently, screening regimens should be tailored according to both genetic and clinical information at the individual and familial level. This clinical consensus statement provides tools to help with the risk assessment and follow-up of screening for family members and discusses the utility for integration of genotype-specific information, cardiac imaging, and electrocardiogram findings to personalize cardiac screening regimens, which in conjunction will likely improve individualized risk prediction. Early phenotypic detection of DCM in family members remains an active area of research and innovation. In addition, data are starting to accrue on the utility of early therapeutic intervention in family members with very mild phenotypes that may inform future management in addition to screening. A systematic strategy is proposed to determine the a priori risk of developing DCM for a family member, and the potential of integrating genotype–phenotype knowledge towards family management. Lastly, there is a focus on the current knowledge gaps and ongoing and future opportunities to improve risk prediction, early disease detection, and treatment of family members of patients with DCM.
| Type: | Article |
|---|---|
| Title: | Clinical care of family members of patients with dilated cardiomyopathy: A clinical consensus statement of the Heart Failure Association of the European Society of Cardiology, the European Society of Cardiology Working Group on Myocardial & Pericardial Diseases, and the European Society of Cardiology Council on Cardiovascular Genomics |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/eurheartj/ehaf571 |
| Publisher version: | https://doi.org/10.1093/eurheartj/ehaf571 |
| Language: | English |
| Additional information: | Copyright © The Author(s) 2025. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Dilated cardiomyopathy, Genetics, Screening, Family members |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10214909 |
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