1. Brugada syndrome unmasked by accidental inhalation of gasoline vapors.
- Author
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Kranjcec D, Bergovec M, Rougier JS, Raguz M, Pavlovic S, Jespersen T, Castella V, Keller DI, and Abriel H
- Subjects
- Atrial Fibrillation chemically induced, Brugada Syndrome genetics, Humans, Inhalation, Male, Middle Aged, Accidents, Occupational, Brugada Syndrome diagnosis, Gasoline poisoning
- 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.
- Published
- 2007
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