title: Brugada syndrome: a heterogeneous disease with a common ECG phenotype?
abstract: Our understanding of Brugada syndrome (BrS) has evolved since the syndrome was first described in 1992. BrS is considered to be a primary inherited channelopathy often involving the inward sodium current and the diagnosis has traditionally required the exclusion of overt structural heart disease. In view of recently published observations about BrS, we propose that the term BrS may actually encompass a heterogeneous group of disorders with a variety of genetic and clinical phenotypes. This disease has classically been described as a primary electrical disorder involving the sodium channel leading to the characteristic electrocardiogram (ECG) changes of BrS. We challenge the current understanding and propose that patients with structurally normal hearts, family history of sudden cardiac death, with associated genetic abnormalities only account for a subset of patients with the "Brugada pattern" ECG. There may also be some patients with a diagnosis of BrS who may also have features which overlap with arrhythmogenic right ventricular cardiomyopathy. In these patients there may be an underlying structural abnormality. In this context, it is possible that catheter ablation may abolish the "Brugada pattern" ECG changes as well as abolishing the risk of life threatening arrhythmias in these patients. Given the recent developments in the field, we propose a novel comprehensive multimodality model for risk stratification and assessment of patients with BrS. Identification of variations of diseases may facilitate more specific risk stratification models and management paradigms in patients with Brugada ECG pattern.
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital.|Agnes Ginges Centre for Molecular Cardiology, Centenary Institute.|Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Belinda
authors.initials: B
authors.lastname: Gray
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital.|Agnes Ginges Centre for Molecular Cardiology, Centenary Institute.|Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Semsarian
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital.|Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Raymond W
authors.initials: RW
authors.lastname: Sy
mesh_terms: D053840:Brugada Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D004562:Electrocardiography; D006801:Humans; D009206:Myocardium / Q000473:pathology; D010641:Phenotype
keywords: Brugada syndrome; arrhythmogenic right ventricular cardiomyopathy; genetics; heterogeneity; sodium channel; substrate