There are no conflicts of interest.
Genetics of hypertrophic cardiomyopathy in Norway
Article first published online: 23 OCT 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 4, pages 355–360, October 2014
How to Cite
Berge, K.E. and Leren, T.P. (2014), Genetics of hypertrophic cardiomyopathy in Norway. Clinical Genetics, 86: 355–360. doi: 10.1111/cge.12286
- Issue published online: 16 SEP 2014
- Article first published online: 23 OCT 2013
- Accepted manuscript online: 23 SEP 2013 12:35PM EST
- Manuscript Revised: 20 SEP 2013
- Manuscript Accepted: 20 SEP 2013
- Manuscript Received: 12 JUL 2013
- DNA sequencing;
- hypertrophic cardiomyopathy;
Genetic testing for hypertrophic cardiomyopathy (HCM) became available in Norway in 2003. Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MYH7, TNNI3, TNNT2, MYL2 and MYL3 were analyzed in two groups of probands. In Group 1, comprising 696 probands above 1 year of age, a mutation was found in 203 patients (29.2%). Of those, 5.9% were carriers of two mutations. Mean age in double mutation carriers, single mutation carriers and mutation negative probands was 44 years (±19 years), 50 years (±15 years) and 55 years (±16 years), respectively. In Group 2, comprising 26 infants below the age of 1, a mutation was found in 15.4%. A total of 120 different mutations were found of which 51 (42.5%) were novel.