Myotonic dystrophy and Brugada syndrome: A common pathophysiologic pathway?

• Published in: Journal of electrocardiology Vol. 50; no. 4; pp. 513 - 517
• Main Authors: Pérez-Riera, Andrés Ricardo, MD, PhD, Baranchuk, Adrian, MD, FACC, FRCPC, FCCS, Zhang, Li, MD, PhD, Barbosa-Barros, Raimundo, MD, de Abreu, Luiz Carlos, PhD, Brugada, Pedro, MD, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-07-2017; Elsevier Science Ltd
• Subjects: Adult; Brugada phenocopy; Brugada syndrome; Brugada Syndrome - diagnosis; Brugada Syndrome - etiology; Brugada Syndrome - physiopathology; Cardiac arrhythmia; Cardiovascular; Diagnosis, Differential; Echocardiography; Electrocardiography; Humans; Intraventricular conduction system; Male; Muscle contraction; Muscular dystrophy; Myotonic Dystrophy - complications; Myotonic Dystrophy - physiopathology; Neuromuscular diseases; Steinert's disease; Type 1 Brugada ECG pattern; Vectorcardiography; Steinert's disease; Type 1 Brugada ECG pattern; Brugada syndrome; Intraventricular conduction system; Brugada phenocopy
• ISSN: 0022-0736; 1532-8430
• DOI: 10.1016/j.jelectrocard.2017.03.008

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.