Key result
Genetic testing refines diagnosis, risk stratification, and targeted therapies in dilated and arrhythmogenic cardiomyopathies.
Why the study?
Genetic testing for DCM and ACM is clinically important but challenging due to variable penetrance, phenotypic overlap, and genetic heterogeneity.
Genetic testing in dilated and arrhythmogenic cardiomyopathies is increasingly important for refining diagnosis, risk stratification (including ICD decisions), and enabling family cascade screening.
Offers clinicians a synthesis for genetic testing in cardiomyopathies; leaves open prospective validation of genotype-informed risk models.
Genetic testing for dilated and arrhythmogenic cardiomyopathies (DCM, ACM) is increasingly important as it can refine diagnosis, inform risk stratification, and enable cascade screening. However, its clinical application remains challenging due to variable penetrance, phenotypic overlap, and marked genetic heterogeneity. This review provides a practical framework for the use of genetic testing in DCM and ACM. We outline a stepwise approach to clinical phenotyping and patient selection, review the principles of genetic testing and result interpretation, and summarize key pre- and post-test counseling considerations. We also highlight clinically important genotypes with implications for prognosis, arrhythmic risk, decisions regarding implantable cardioverter-defibrillator (ICD) implantation, family screening, and lifestyle counseling. Finally, we discuss the two-hit model that determines disease expressivity, emerging targeted therapies, and future directions in precision care.
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Dillon et al. (2026) conducted a review in Dilated and arrhythmogenic cardiomyopathies (DCM, ACM). Genetic testing was evaluated. Genetic testing for dilated and arrhythmogenic cardiomyopathies provides a practical framework for refining diagnosis, risk stratification, and guiding therapies despite variable penetrance.
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