Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant
Maria d'Apolito1, Maria Rosaria D'Apice2, Francesco Santoro3
1Department of Clinical and Experimental Medicine, Medical Genetics, University of Foggia, Foggia, Italy.
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.
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