title: Myotonic dystrophy and Brugada syndrome: A common pathophysiologic pathway?
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.
authors.affiliation: Design of Studies and Scientific Writing Laboratory at the ABC School of Medicine, Santo André, São Paulo, Brazil. Electronic address: riera@uol.com.br.
authors.forename: Andrés Ricardo
authors.initials: AR
authors.lastname: Pérez-Riera
authors.affiliation: Division of Cardiology, Queen's University, Kingston, Ontario, Canada.
authors.forename: Adrian
authors.initials: A
authors.lastname: Baranchuk
authors.affiliation: Lankenau Medical Center and Lankenau Institute for Medical Research, Wynnewood, PA, USA.
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Coronary Center of the Hospital de Messejana Dr. Carlos Alberto Studart Gomes, Fortaleza, CE, Brazil.
authors.forename: Raimundo
authors.initials: R
authors.lastname: Barbosa-Barros
authors.affiliation: Design of Studies and Scientific Writing Laboratory at the ABC School of Medicine, Santo André, São Paulo, Brazil.
authors.forename: Luiz Carlos
authors.initials: LC
authors.lastname: de Abreu
authors.affiliation: Department of Cardiology, Heart Rhythm Management Center, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.
authors.forename: Pedro
authors.initials: P
authors.lastname: Brugada
mesh_terms: D000328:Adult; D053840:Brugada Syndrome / Q000175:diagnosis* / Q000209:etiology* / Q000503:physiopathology*; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000503:physiopathology*; D014672:Vectorcardiography
keywords: Brugada phenocopy; Brugada syndrome; Intraventricular conduction system; Steinert's disease; Type 1 Brugada ECG pattern