title: Natural history of Brugada syndrome in a patient with congenital heart disease.
abstract: Risk stratification of sudden death in patients with Brugada syndrome (BrS) is a controversial issue, and there is currently no consensus on the best method. Examination of data from the natural history of the disease is of fundamental importance and may help to identify relatives at risk. At the same time, study of the genetic mutations responsible for the disease may also contribute to risk stratification of the syndrome, enabling identification of asymptomatic relatives carrying mutations. This paper presents the case of a young man, aged 26, monitored as a pediatric cardiology outpatient from birth for a simple structural heart defect not requiring surgery. Analysis of the evolution of the patient's electrocardiogram revealed the appearance, at the age of 20, of a pattern compatible with type I BrS. Following an episode of syncope and induction of polymorphic ventricular tachycardia in the electrophysiological study, a cardioverter-defibrillator was implanted. One year later, a single shock terminated an episode of ventricular fibrillation. A molecular study of the SCN5A gene identified a rare mutation, c.3622G>T (p.Glu1208X), recently described and associated with more severe phenotypes in patients with BrS, as in the case presented.
authors.affiliation: Serviço de Cardiologia I, Hospital Universitário de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal. Electronic address: dojreis@hotmail.com.
authors.forename: Doroteia
authors.initials: D
authors.lastname: Silva
authors.affiliation: Serviço de Cardiologia Pediátrica, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, Portugal.
authors.forename: Fernando Maymone
authors.initials: FM
authors.lastname: Martins
authors.affiliation: Serviço de Cardiologia, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, Portugal.
authors.forename: Diogo
authors.initials: D
authors.lastname: Cavaco
authors.affiliation: Serviço de Cardiologia, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, Portugal.
authors.forename: Pedro
authors.initials: P
authors.lastname: Adragão
authors.affiliation: Serviço de Cardiologia Pediátrica, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, Portugal.
authors.forename: Margarida Matos
authors.initials: MM
authors.lastname: Silva
authors.affiliation: Serviço de Cardiologia Pediátrica, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, Portugal.
authors.forename: Rui
authors.initials: R
authors.lastname: Anjos
authors.affiliation: Serviço de Neuro-Psicologia, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal.
authors.forename: Álvaro
authors.initials: Á
authors.lastname: Ferreira
authors.affiliation: Cardiogenética, Serviço de Cardiologia Pediátrica, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, Portugal.
authors.forename: Isabel Mendes
authors.initials: IM
authors.lastname: Gaspar
mesh_terms: D000328:Adult; D053840:Brugada Syndrome / Q000209:etiology*; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D008297:Male
keywords: Brugada syndrome; Electrocardiogram; Eletrocardiograma; Morte súbita; Mutação SCN5A; SCN5A mutation; Sudden cardiac death; Síndrome de Brugada