Brugada syndrome unmasked by accidental inhalation of gasoline vapors.


Autoria(s): Kranjcec D.; Bergovec M.; Rougier J.S.; Raguz M.; Pavlovic S.; Jespersen T.; Castella V.; Keller D.I.; Abriel H.
Data(s)

2007

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