A variant of Brugada syndrome.

نویسندگان

  • Maryna Popp Switzer
  • Mohamed Teleb
  • Enoch Agunanne
  • Aamer Abbas
چکیده

Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest.

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عنوان ژورنال:
  • Proceedings

دوره 30 1  شماره 

صفحات  -

تاریخ انتشار 2017