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Europace. 2009 Mar;11(3):379-81. doi: 10.1093/europace/eun378. Epub 2009 Jan 16.

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.

Author information

1
Département de Cardiologie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France.

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.

PMID:
19151369
DOI:
10.1093/europace/eun378
[Indexed for MEDLINE]

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