Article
Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Mar 2009
Gandjbakhch Estelle, Fressart Véronique, Bertaux Géraldine, Faivre Laurence, Simon Françoise, Frank Robert, Fontaine Guy, Villard Eric, Coirault Catherine, Hainque Bernard, Charron Philippe
Abstract excerpt
We report the case of a 41-year-old man with a diagnosis of sporadic arrhythmogenic right ventricular cardiomyopathy (ARVC). Genetic screening identified the heterozygous missense mutation R49H in the desmoglein-2 gene. The mutation was absent in both parents, and we demonstrated that it was a de novo mutation. To the best of our knowledge, this is the first description of a de novo mutation in ARVC. This has...
Topics
- Adult
- Arrhythmogenic Right Ventricular Dysplasia
- Desmoglein 2
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation