| Literature DB >> 28127136 |
Maryna Popp Switzer1, Mohamed Teleb1, Enoch Agunanne1, Aamer Abbas1.
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.Entities:
Year: 2017 PMID: 28127136 PMCID: PMC5242117 DOI: 10.1080/08998280.2017.11929530
Source DB: PubMed Journal: Proc (Bayl Univ Med Cent) ISSN: 0899-8280