PubMed 20395683

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Nav1.5

Title: Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation.

Authors: Anders G Holst, Bo Liang, Thomas Jespersen, Henning Bundgaard, Stig Haunso, Jesper Hastrup Svendsen, Jacob Tfelt-Hansen

Journal, date & volume: Cardiology, 2010 , 115, 311-6

PubMed link:

Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.