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- Title
Sick Sinus Syndrome, Progressive Cardiac Conduction Disease, Atrial Flutter and Ventricular Tachycardia Caused by a Novel SCN5A Mutation.
- Authors
Holst, Anders G.; Bo Liang; Jespersen, Thomas; Bundgaard, Henning; Haunso, Stig; Svendsen, Jesper Hastrup; Tfelt-Hansen, Jacob
- Abstract
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. Copyright © 2010 S. Karger AG, Basel
- Subjects
GENETIC mutation; SICK sinus syndrome; HEART diseases; ATRIAL flutter; VENTRICULAR tachycardia; PHENOTYPES
- Publication
Cardiology, 2010, Vol 115, Issue 4, p311
- ISSN
0008-6312
- Publication type
Article
- DOI
10.1159/000312747