Brugada syndrome unmasked by accidental inhalation of gasoline vapors.
Data(s) |
2007
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Resumo |
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. |
Identificador |
http://serval.unil.ch/?id=serval:BIB_BFD12F33AAF7 isbn:0147-8389 pmid:17897138 doi:10.1111/j.1540-8159.2007.00857.x isiid:000249825900020 |
Idioma(s) |
en |
Fonte |
Pacing and Clinical Electrophysiology, vol. 30, no. 10, pp. 1294-1298 |
Palavras-Chave | #Accidents, Occupational; Atrial Fibrillation/chemically induced; Brugada Syndrome/diagnosis; Brugada Syndrome/genetics; Gasoline/poisoning; Humans; Inhalation; Male; Middle Aged |
Tipo |
info:eu-repo/semantics/article article |