title: Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.
abstract: 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 important implications, including for clinical practice, since individuals with sporadic ARVC caused by a de novo mutation can transmit the disease gene to 50% of their offspring. This suggests that the benefit of molecular genetics can be extended to sporadic ARVC and may improve genetic counselling.
authors.affiliation: Département de Cardiologie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Gandjbakhch
authors.forename: Véronique
authors.initials: V
authors.lastname: Fressart
authors.forename: Géraldine
authors.initials: G
authors.lastname: Bertaux
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Françoise
authors.initials: F
authors.lastname: Simon
authors.forename: Robert
authors.initials: R
authors.lastname: Frank
authors.forename: Guy
authors.initials: G
authors.lastname: Fontaine
authors.forename: Eric
authors.initials: E
authors.lastname: Villard
authors.forename: Catherine
authors.initials: C
authors.lastname: Coirault
authors.forename: Bernard
authors.initials: B
authors.lastname: Hainque
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D051301:Desmoglein 2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C495314:DSG2 protein, human; D051301:Desmoglein 2