Brugada syndrome unmasked by accidental inhalation of gasoline vapors.
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Brugada syndrome unmasked by accidental inhalation of gasoline vapors. / Kranjcec, Darko; Bergovec, Mijo; Rougier, Jean-Sébastien; Raguz, Miroslav; Pavlovic, Sonja; Jespersen, Thomas; Castella, Vincent; Keller, Dagmar I; Abriel, Hugues.
In: Pacing and Clinical Electrophysiology, Vol. 30, No. 10, 2007, p. 1294-8.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Brugada syndrome unmasked by accidental inhalation of gasoline vapors.
AU - Kranjcec, Darko
AU - Bergovec, Mijo
AU - Rougier, Jean-Sébastien
AU - Raguz, Miroslav
AU - Pavlovic, Sonja
AU - Jespersen, Thomas
AU - Castella, Vincent
AU - Keller, Dagmar I
AU - Abriel, Hugues
N1 - Keywords: Accidents, Occupational; Atrial Fibrillation; Brugada Syndrome; Gasoline; Humans; Inhalation; Male; Middle Aged
PY - 2007
Y1 - 2007
N2 - 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.
AB - 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.
U2 - 10.1111/j.1540-8159.2007.00857.x
DO - 10.1111/j.1540-8159.2007.00857.x
M3 - Journal article
C2 - 17897138
VL - 30
SP - 1294
EP - 1298
JO - PACE - Pacing and Clinical Electrophysiology
JF - PACE - Pacing and Clinical Electrophysiology
SN - 0147-8389
IS - 10
ER -
ID: 8464277