A variant of Brugada syndrome.

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. PMID: 28127136 [PubMed - in process]
Source: Baylor University Medical Center Proceedings - Category: Universities & Medical Training Authors: Tags: Proc (Bayl Univ Med Cent) Source Type: research