title: Brugada syndrome unmasked by accidental inhalation of gasoline vapors.
abstract: Loss-of-function mutations in the gene SCN5A can cause Brugada syndrome (BrS), which is an inherited form of idiopathic ventricular fibrillation. We report the case of a 46-year-old patient, with no previous medical history, who had ventricular fibrillation after accidental inhalation of gasoline vapors. His electrocardiogram (ECG) showed a typical type-1 BrS pattern that persisted after the acute event. Genetic investigations allowed the identification of a novel SCN5A mutation leading to a frame-shift and early termination of the channel protein. Biochemical and cellular electrophysiology experiments confirmed the loss-of-function of the mutant allele. The patient was implanted with a cardioverter/defibrillator.
authors: Department of Cardiology, University Hospital Dubrava, Zagreb, Croatia.
authors: Darko
authors: D
authors: Kranjcec
authors: Mijo
authors: M
authors: Bergovec
authors: Jean-Sébastien
authors: JS
authors: Rougier
authors: Miroslav
authors: M
authors: Raguz
authors: Sonja
authors: S
authors: Pavlovic
authors: Thomas
authors: T
authors: Jespersen
authors: Vincent
authors: V
authors: Castella
authors: Dagmar I
authors: DI
authors: Keller
authors: Hugues
authors: H
authors: Abriel
mesh_terms: D000062:Accidents, Occupational; D001281:Atrial Fibrillation / Q000139:chemically induced; D053840:Brugada Syndrome / Q000175:diagnosis* / Q000235:genetics; D005742:Gasoline / Q000506:poisoning*; D006801:Humans; D001239:Inhalation; D008297:Male; D008875:Middle Aged
chemical_list: D005742:Gasoline