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Genetic counselling implementation in dilated cardiomyopathy.
Job A J Verdonschot1,2, Karin Y van Spaendonck-Zwarts3,4, Debby M E I Hellebrekers1
1Department of Clinical Genetics, Maastricht University Medical Center+, P. Debyelaan 25, Maastricht 6229HX, The Netherlands.
European Heart Journal
|March 20, 2026
Summary
Genetic testing is crucial for diagnosing dilated cardiomyopathy (DCM), aiding risk stratification, prognosis, and treatment decisions for patients and families. Advances are shifting focus from single-gene to polygenic causes, improving clinical utility.
Area of Science:
- Cardiovascular Genetics
- Medical Diagnostics
Background:
- Genetic testing is integral to diagnosing dilated cardiomyopathy (DCM).
- Understanding of DCM's genetic basis has evolved from monogenic to polygenic models.
- Current strategies often still rely on monogenic inheritance assumptions.
Purpose of the Study:
- To highlight the expanding role of genetic testing in DCM diagnosis and clinical decision-making.
- To discuss the evolving genetic landscape of DCM, including polygenic influences.
- To propose an integrated approach for genetic testing in DCM patient care.
Main Methods:
- Review of current genetic testing strategies for DCM.
- Analysis of genetic testing yield (8-36%) based on etiology and family history.
- Classification of genetic variants and their clinical interpretation.
Main Results:
- Genetic testing has actionable clinical implications impacting risk stratification, prognosis, and treatment.
- Results can guide decisions on device therapy, family screening, and reproductive options.
- Interpreting variants requires considering patient phenotype and other factors.
Conclusions:
- Genetic testing is warranted when results influence patient or family management.
- A comprehensive approach integrating genetic insights into DCM care is essential.
- The utility of genetic testing in DCM extends beyond risk identification to direct clinical management.
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