A CASUAL SPONTANEOUS MUTATION AS POSSIBLE CAUSE OF THE FAMILIAL FORM OF ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA)
FAMILIAL CARDIOMYOPATHIES;
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA;
AUTOSOMAL DOMINANT TRANSMISSION;
D O I:
10.1002/clc.4960150314
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
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.