AUTHOR=Li Wenjia , Yin Lei , Shen Cheng , Hu Kai , Ge Junbo , Sun Aijun 

TITLE=SCN5A Variants: Association With Cardiac Disorders

JOURNAL=Frontiers in Physiology

VOLUME=9

YEAR=2018

URL=https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2018.01372

DOI=10.3389/fphys.2018.01372

ISSN=1664-042X

ABSTRACT=<p>The <italic>SCN5A</italic> gene encodes the alpha subunit of the main cardiac sodium channel Na<sub>v</sub>1.5. This channel predominates inward sodium current (INa) and plays a critical role in regulation of cardiac electrophysiological function. Since 1995, <italic>SCN5A</italic> variants have been found to be causatively associated with Brugada syndrome, long QT syndrome, cardiac conduction system dysfunction, dilated cardiomyopathy, etc. Previous genetic, electrophysiological, and molecular studies have identified the arrhythmic and cardiac structural characteristics induced by <italic>SCN5A</italic> variants. However, due to the variation of disease manifestations and genetic background, impact of environmental factors, as well as the presence of mixed phenotypes, the detailed and individualized physiological mechanisms in various <italic>SCN5A</italic>-related syndromes are not fully elucidated. This review summarizes the current knowledge of <italic>SCN5A</italic> genetic variations in different <italic>SCN5A</italic>-related cardiac disorders and the newly developed therapy strategies potentially useful to prevent and treat these disorders in clinical setting.</p>