A CASUAL SPONTANEOUS MUTATION AS POSSIBLE CAUSE OF THE FAMILIAL FORM OF ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA)

被引:11
|
作者
CANCIANI, B
NAVA, A
TOSO, V
MARTINI, B
THIENE, G
机构
[1] UNIV PADUA,SCH MED,DEPT CARDIOL,I-35100 PADUA,ITALY
[2] UNIV PADUA,SCH MED,DEPT PATHOL,I-35100 PADUA,ITALY
关键词
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.
引用
收藏
页码:217 / 219
页数:3
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