Brugada syndrome in children - Stepping into unchartered territory

Abstract

Brugada syndrome (BrS) is an autosomal dominant inherited channelopathy. It is associated with a typical pattern of ST-segment elevation in the precordial leads V1–V3 and potentially lethal ventricular arrhythmias in otherwise healthy patients. It is frequently seen in young Asian males, in whom it has previously been described as sudden unexplained nocturnal death syndrome. Although it typically presents in young adults, it is also known to present in children and infants, especially in the presence of fever. Our understanding of the genetic pathogenesis and management of BrS has grown substantially considering that it has only been 24 years since its first description as a unique clinical entity. However, there remains much to be learned, especially in the pediatric population. This review aims to discuss the epidemiology, genetics, and pathogenesis of BrS. We will also discuss established standards and new innovations in the diagnosis, prognostication, risk stratification, and management of BrS. Literature search was run on the National Center for Biotechnology Information's website, using the Medical Subject Headings (MeSH) database with the search term “Brugada Syndrome” (MeSH), and was run on the PubMed database using the age filter (birth–18 years), yielding 334 results. The abstracts of all these articles were studied, and the articles were categorized and organized. Articles of relevance were read in full. As and where applicable, relevant references and citations from the primary articles were further explored and read in full.

COVID-19 reveals Brugada pattern in an adolescent patient

“…2 Despite its hereditary nature, most patients are not diagnosed until middle adulthood after presenting with life-threatening arrhythmias, including polymorphic ventricular tachycardia or ventricular fibrillation. 3 The hallmark electrocardiographic finding of the Brugada pattern is ST-segment elevation of the right pre-cordial leads (V1 and V2) that presents spontaneously or is provoked with Class I antiarrhythmic medications. 4 In children and adolescents, most patients are diagnosed with a surveillance electrocardiogram obtained in the context of a known family history of Brugada syndrome.…”

Post-operative Brugada electrocardiographic pattern, polymorphic ventricular tachycardia, and sudden death in a child after administration of propofol anaesthesia

“…1 Despite the underlying genetic basis, mutations are only identified in only a minority of patients (11-30%) with BrS. 2 Diagnosis of BrS rests on demonstrating either spontaneous or class I antiarrhythmic-induced type 1 EKG morphology (coved-type ST-segment elevation with ≥2 mm elevation in ≥1 lead among the right precordial leads V1, V2, positioned in the 2 nd , 3 rd , or 4 th intercostal space) or conversion of type 2 and 3 EKG morphology (ST-segment elevation in ≥1 lead among the right precordial leads V1, V2 positioned in the 2 nd , 3 rd , or 4 th intercostal space) to type 1 upon provocative drug testing with intravenous administration of Class I antiarrhythmic drugs. 3 Two-thirds of patients with BrS are asymptomatic at presentation, whereas a third are diagnosed after symptoms (syncope or aborted SCD) most of which occur at rest or during sleep when the vagal tone is high.…”

The BrAID study protocol: integration of machine learning and transcriptomics for brugada syndrome recognition

“…In these last years, the research interest on BrS has significantly increased since it prevalently affects healthy young adults during their most productive years [ 1 ]. Due to its genetic component, there is a need to identify other potentially affected relatives, focusing on children [ 4 ].…”

“…Challenges and actual controversies do exist as far as BrS diagnosis is concerned. Although at a clinical level BrS presents specific ECG features and these criteria have a wide consensus as underlined by present guidelines [ 21 ], difficulties exist on ECG interpretation due to the extreme variability of ECG patterns that may change with time and during situations as sleep, fever and vagal stimulation [ 4 , 5 ]. In contrast to diagnostic criteria for the long QT syndrome, one of the main difficulties in BrS diagnosis is the absence of exact cut-off values to base a clear-cut diagnosis.…”