Dilated cardiomyopathy (DCM) is a heterogeneous disease caused by genetic, environmental, or combined factors.
April’s “4bases Paper of the Month” reports about a clinical consensus statement from the ESC, aimed to provide guidance on integrating genetic testing into routine clinical care for DCM patients, by describing the current knowledge of the genetic basis of DCM, clarifying the interpretation of results and discussing their clinical implications.
As reported by the authors, genetic testing is indicated for every DCM patient where results could influence diagnosis, prognosis, treatment, or reproductive management. Diagnostic yield ranges from 8% to 36% depending on aetiology and family history. A targeted core gene panel is preferred over broad panels, which increase the risk of variants of uncertain significance (VUS) without a proportional gain in clinically actionable findings.
The paper discusses in detail the role of genetic testing in the diagnostic workup of DCM patients, the interpretation of results in the context of the individual patient, and the clinical consequences of genetic testing in dilated cardiomyopathy, which include gene-specific risk stratification for ICD implantation, cardiac screening of first-degree relatives, and reproductive counselling.
As the authors conclude, education of cardiologists in genetics and genomics, along with the possibility to discuss cases with specialized centers, is essential to further expand the role of genetics in patient care.
At 4bases we are committed to educating clinicians in genetics and genomics, and to providing effective solutions for various diagnostic applications; in the field of cardiovascular genetics we offer Cardio Pro, a CE-IVD, capture-based NGS kit designed for the comprehensive analysis of familial cardiovascular diseases. Covering 232 carefully curated genes associated with cardiomyopathies, channelopathies, and related conditions, Cardio Pro enables reliable detection of SNVs and CNVs from germline samples, supporting clinicians in delivering precise and actionable insights.
Eager to know more? Read the full paper here
Source: Verdonschot JAJ et al., Genetic counselling implementation in dilated cardiomyopathy. European Heart Journal (2026). https://doi.org/10.1093/eurheartj/ehag159
