Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy

Research output: Contribution to journalJournal articleResearchpeer-review


  • Fulltext

    Final published version, 210 KB, PDF document



Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease-causing mutation. In the present study we aimed at investigating the involvement of the genes SCN1B-SCN4BFHL1, and LMNA in the pathogenesis of ARVC.


Sixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants in SCN1B-4BFHL1, and LMNA by direct sequencing and LightScanner melting curve analysis.


A total of 28 sequence variants were identified: seven in SCN1B, three in SCN2B, two in SCN3B, two in SCN4B, four in FHL1, and ten in LMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified.


In our limited sized cohort the six studied candidate genes were not associated with ARVC.

Original languageEnglish
JournalApplied and Translational Genomics
Pages (from-to)44-46
Publication statusPublished - 1 Dec 2012

ID: 196039661