Referenced in: none

Automatically associated channels: Nav1.5

Title: Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel.

Authors: Jacob Tfelt-Hansen, Bo Gregers Winkel, Morten Grunnet, Thomas Jespersen

Journal, date & volume: J. Cardiovasc. Electrophysiol., 2010 Jan , 21, 107-15

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19845816

Abstract
A prerequisite for a normal cardiac function is a proper generation and propagation of electrical impulses. Contraction of the heart is obtained through a delicate matched transmission of the electrical impulses. A pivotal element of the impulse propagation is the depolarizing sodium current, responsible for the initial depolarization of the cardiomyocytes. Recent research has shown that mutations in the SCN5A gene, encoding the cardiac sodium channel Nav1.5, are associated with both rare forms of ventricular arrhythmia, as well as the most frequent form of arrhythmia, atrial fibrillation (AF). In this comprehensive review, we describe the functional role of Nav1.5 and its associated proteins in propagation and depolarization both in a normal- and in a pathophysiological setting. Furthermore, several of the arrhythmogenic diseases, such as long-QT syndrome, Brugada syndrome, and AF, reported to be associated with mutations in SCN5A, are thoroughly described.