Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.
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.
Gandjbakhch
Estelle
E
Département de Cardiologie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France.
Fressart
Véronique
V
Bertaux
Géraldine
G
Faivre
Laurence
L
Simon
Françoise
F
Frank
Robert
R
Fontaine
Guy
G
Villard
Eric
E
Coirault
Catherine
C
Hainque
Bernard
B
Charron
Philippe
P
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
C495314:DSG2 protein, human; D051301:Desmoglein 2