Key result
Early genetic testing in DCM identifies high-risk LMNA variants to guide timely ICD therapy.
Why the study?
Despite known genetic pathogenic variants in dilated cardiomyopathy, clinical practice often treats genetic testing as a secondary step rather than an early diagnostic priority.
Case Report (n=3)
No
Early genetic testing in patients with dilated cardiomyopathy and conduction system disease is crucial for identifying high-risk genotypes like LMNA to guide management and prevent life-threatening arrhythmias.
Supports genetic testing in conduction disease to flag LMNA risk; leaves open whether early identification improves outcomes.
Despite the known genetic pathogenic variants involved in dilated cardiomyopathy (DCM), clinical practice often considers genetic testing as a secondary step rather than a diagnostic priority. In this report, we present a series of cases from our experience in Lebanon where the aggressive nature of specific genotypes, particularly Lamin A/C ( LMNA ) pathogenic genetic variants, was initially masked by the standard heart failure management. The patients’ medical records were reviewed for clinical presentation, disease progression and complications, as well as relevant diagnostic studies and genetic findings. The genetic analysis of the patients was performed through a comprehensive next-generation sequencing (NGS)-based multigene cardiac panel. We describe the clinical presentations of three patients with genetic cardiomyopathies who rapidly progressed from conduction system diseases to life-threatening arrhythmias, a trajectory that might have been altered by earlier genetic identification. These cases highlight the importance of identifying “red flags” for genetic cardiomyopathies in the early disease stages. By sharing these findings, we aim to show that performing genetic evaluation early in the diagnostic process is a clinical necessity rather than a classification task since it is essential for managing patients and screening families to prevent avoidable mortality.
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Gerges et al. (2026) conducted a case report in Genetic cardiomyopathy (Dilated cardiomyopathy) (n=3). Genetic testing (NGS-based multigene cardiac panel) was evaluated. Genetic testing in three patients with dilated cardiomyopathy identified high-risk LMNA pathogenic variants, demonstrating that early screening is essential to guide timely implantable cardioverter-defibrillator therapy and prevent sudden cardiac death.
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