Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
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Tidsskrift | Cardiology |
Vol/bind | 115 |
Udgave nummer | 4 |
Sider (fra-til) | 311-6 |
Antal sider | 6 |
ISSN | 0008-6312 |
DOI | |
Status | Udgivet - 2010 |
Bibliografisk note
Copyright (c) 2010 S. Karger AG, Basel.
ID: 21258770