Case Report: Multiple Genetic Mutations in an Infant with Refractory Brugada-Like Syndrome

By Katie Kowalek, MD; Ricardo A. Samson, MD; Kevin Engelhardt MD; Yung Lau, MD; Santiago O. Valdes, MD

Introduction

Brugada Syndrome (BrS) was first described by Pedro and Josep Brugada in 1992 as Right Bundle Branch Block (RBBB) with ST segment elevation, conveying increased risk of sudden cardiac death.1,2 Over time, BrS has been found to be associated with gene mutations encoding for cardiac sodium, calcium, or potassium ion channels.3 These channelopathies predominate mostly in the epicardium, resulting in a loss of function of sodium or calcium channels, or a gain of function in potassium channels.

To read the full article, please go to the November 2016 Issue of CCT, where it was originally published.