Brugada syndrome unmasked by accidental inhalation of gasoline vapors.
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.
Kranjcec
Darko
D
Department of Cardiology, University Hospital Dubrava, Zagreb, Croatia.
Bergovec
Mijo
M
Rougier
Jean-Sébastien
JS
Raguz
Miroslav
M
Pavlovic
Sonja
S
Jespersen
Thomas
T
Castella
Vincent
V
Keller
Dagmar I
DI
Abriel
Hugues
H
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
D005742:Gasoline