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

来源：

CLINICAL CARDIOLOGY | 1992年 / 15卷 / 03期

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

页码：217 / 219

页数：3

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