M. d'Apolito, M. D’Apice, Francesco Santoro, M. Patrizio, A. Ranaldi, Anna Botta, Giovanna D'Andrea, R. Santacroce, G. Novelli, M. Margaglione
tlooto Summary
This case expands the spectrum of Brugada phenotypes to DM2 and highlights the importance of not underestimating suspicious Brugada-like ECG findings in patients with muscular dystrophies.
Abstract
BACKGROUND Brugada syndrome has been reported in myotonic dystrophy type 1, whereas its association with myotonic dystrophy type 2 (DM2) remains largely unexplored.
CASE SUMMARY We report a patient with genetically confirmed DM2 who presented with an electrocardiogram showing a Brugada type-2 ECG pattern. Sodium-channel blocker testing unmasked a diagnostic type 1 Brugada pattern. Genetic analysis excluded SCN5A variants and identified a rare heterozygous ANK2 missense variant, a gene involved in cardiac electrical stability.
CONCLUSION This case expands the spectrum of Brugada phenotypes to DM2 and highlights the importance of not underestimating suspicious Brugada-like ECG findings in patients with muscular dystrophies.
Citation format
D'APOLITO, M., et al. Unmasking brugada ECG pattern in myotonic dystrophy type 2 with an ANK2 variant. PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 2026.