A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia).
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.
Canciani
B
B
Department of Cardiology, Medical School, Padua University, Italy.
Nava
A
A
Toso
V
V
Martini
B
B
Thiene
G
G
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