title: A variant of Brugada syndrome.
abstract: 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.
authors.affiliation: Departments of Internal Medicine (Switzer, Teleb, Agunanne, Abbas) and Cardiology (Teleb, Agunanne, Abbas), Texas Tech University Health Sciences Center, El Paso, Texas.
authors.forename: Maryna Popp
authors.initials: MP
authors.lastname: Switzer
authors.affiliation: Departments of Internal Medicine (Switzer, Teleb, Agunanne, Abbas) and Cardiology (Teleb, Agunanne, Abbas), Texas Tech University Health Sciences Center, El Paso, Texas.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Teleb
authors.affiliation: Departments of Internal Medicine (Switzer, Teleb, Agunanne, Abbas) and Cardiology (Teleb, Agunanne, Abbas), Texas Tech University Health Sciences Center, El Paso, Texas.
authors.forename: Enoch
authors.initials: E
authors.lastname: Agunanne
authors.affiliation: Departments of Internal Medicine (Switzer, Teleb, Agunanne, Abbas) and Cardiology (Teleb, Agunanne, Abbas), Texas Tech University Health Sciences Center, El Paso, Texas.
authors.forename: Aamer
authors.initials: A
authors.lastname: Abbas