Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
---|---|
Journal | Cardiology |
Volume | 115 |
Issue number | 4 |
Pages (from-to) | 311-6 |
Number of pages | 6 |
ISSN | 0008-6312 |
DOIs | |
Publication status | Published - 2010 |
Bibliographical note
Keywords: Adult; Atrial Flutter; Disease Progression; Electrocardiography; Family Health; Female; Humans; Male; Muscle Proteins; Mutation, Missense; Pedigree; Phenotype; Sick Sinus Syndrome; Sodium Channels; Tachycardia, Ventricular
ID: 21258770