Recognizing red flags in genetic cardiomyopathy: the importance of genetic testing.

BACKGROUND

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.

METHODS

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.

CASES PRESENTATION: 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.

CONCLUSION

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.