Myotonic dystrophy and Brugada syndrome: A common pathophysiologic pathway?
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Updated: Aug 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Andrés Ricardo Pérez-Riera1, Adrian Baranchuk2, Li Zhang3
1Design of Studies and Scientific Writing Laboratory at the ABC School of Medicine, Santo André, São Paulo, Brazil.
Abstract:
Type 1 myotonic dystrophy (DM1) is a hereditary neuromuscular disease affecting multiple organs in human adults. Here we report a 42-year-old man diagnosed with DM1. Having a history of progressive muscular weakness and gradual loss of visual acuity, he was referred to us by his ophthalmologist for risk assessment of undergoing cataract surgery. Cardiology workup revealed type 1 Brugada ECG pattern, positive late potentials and inducible ventricular fibrillation in an electrophysiology study. Literature review revealed that those ECG changes may be observed in DM1, suggesting that DM1 and Brugada syndrome may share a common pathophysiologic pathway.
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