Brugada syndrome unmasked by accidental inhalation of gasoline vapors.

Darko Kranjcec; Mijo Bergovec; Jean-Sébastien Rougier; Miroslav Raguz; Sonja Pavlovic; Thomas Jespersen; Vincent Castella; Dagmar I Keller; Hugues Abriel

doi:10.1111/j.1540-8159.2007.00857.x

Brugada syndrome unmasked by accidental inhalation of gasoline vapors.

Darko Kranjcec, Mijo Bergovec, Jean-Sébastien Rougier, Miroslav Raguz, Sonja Pavlovic, Thomas Jespersen, Vincent Castella, Dagmar I Keller, Hugues Abriel

Molecular Cardiology and Membrane Proteins

6 Citations (Scopus)

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.

Original language	English
Journal	Pacing and Clinical Electrophysiology
Volume	30
Issue number	10
Pages (from-to)	1294-8
Number of pages	4
ISSN	0147-8389
DOIs	https://doi.org/10.1111/j.1540-8159.2007.00857.x
Publication status	Published - 2007

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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.",

author = "Darko Kranjcec and Mijo Bergovec and Jean-S{\'e}bastien Rougier and Miroslav Raguz and Sonja Pavlovic and Thomas Jespersen and Vincent Castella and Keller, {Dagmar I} and Hugues Abriel",

note = "Keywords: Accidents, Occupational; Atrial Fibrillation; Brugada Syndrome; Gasoline; Humans; Inhalation; Male; Middle Aged",

year = "2007",

doi = "10.1111/j.1540-8159.2007.00857.x",

language = "English",

volume = "30",

pages = "1294--8",

journal = "PACE - Pacing and Clinical Electrophysiology",

issn = "0147-8389",

publisher = "Wiley-Blackwell",

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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

SN - 0147-8389

VL - 30

SP - 1294

EP - 1298

JO - PACE - Pacing and Clinical Electrophysiology

JF - PACE - Pacing and Clinical Electrophysiology

IS - 10

ER -

Brugada syndrome unmasked by accidental inhalation of gasoline vapors.

Abstract

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