Key result
Early genetic testing in two patients identifies LMNA variants, prompting ICD upgrades to prevent SCD.
Why the study?
Sudden cardiac death prevention is important, but patient selection for primary prevention remains controversial.
Case Report (n=2)
Early genetic testing in patients with cardiac conduction disorders is crucial to guide appropriate initial device selection (such as an ICD instead of a pacemaker) and prevent the need for reoperation.
May inform device selection in conduction disorders; hypothesis-generating from Level 5 data and requires prospective validation.
Sudden cardiac death is a catastrophic event, making its prevention important. However, patient selection for primary prevention remains controversial. We report two cases of cardiac conduction disorder initially treated with permanent pacemaker implantation. Genetic testing later revealed novel pathogenic variants in LMNA, leading to an upgrade to implantable cardioverter-defibrillator for primary prevention of sudden cardiac death. These cases highlight the importance of early genetic analysis to guide optimal device therapy. The delay in obtaining genetic results necessitated reoperation, underscoring the need for preceding genomic sequencing and physician awareness to improve clinical decision-making and patient outcomes.
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Inoue et al. (2025) conducted a case report in LMNA-Related Cardiac Conduction Disorder (n=2). Genetic testing and upgrade to implantable cardioverter-defibrillator was evaluated. Early genetic testing in two patients with cardiac conduction disorder identified LMNA variants, prompting an upgrade from pacemaker to ICD to prevent sudden cardiac death.
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