title: A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia).
abstract: In a family affected by arrhythmogenic right ventricular cardiomyopathy (ARVC) the familial occurrence was investigated. All 14 members of two generations were investigated carefully, and only 2 (father and one son) members were affected. Both subjects had a massive form of the disease with relevant ventricular arrhythmias. Apart from the limitations of having investigated few subjects, this behavior suggests a genetic mutation appearing in the father and transmitted via an autosomal dominant trait.
authors.affiliation: Department of Cardiology, Medical School, Padua University, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Canciani
authors.forename: A
authors.initials: A
authors.lastname: Nava
authors.forename: V
authors.initials: V
authors.lastname: Toso
authors.forename: B
authors.initials: B
authors.lastname: Martini
authors.forename: G
authors.initials: G
authors.lastname: Thiene
mesh_terms: D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000235:genetics*; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation