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.
Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant
d'Apolito M.Writing – Review & Editing
;Ranaldi A.Methodology
;D'Andrea G.Methodology
;Santacroce R.Methodology
;Margaglione M.Supervision
2026-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
