Premium
Brugada Syndrome Unmasked by Accidental Inhalation of Gasoline Vapors
Author(s) -
KRANJČEC DARKO,
BERGOVEC MIJO,
ROUGIER JEANSÉBASTIEN,
RAGUZ MIROSLAV,
PAVLOVIC SONJA,
JESPERSEN THOMAS,
CASTELLA VINCENT,
KELLER DAGMAR I.,
ABRIEL HUGUES
Publication year - 2007
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2007.00857.x
Subject(s) - medicine , brugada syndrome , ventricular fibrillation , inhalation , accidental , cardiology , implantable cardioverter defibrillator , anesthesia , physics , acoustics
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.