Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant.

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.