A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia)

B Canciani; A Nava; V Toso; B Martini; G Thiene

doi:10.1002/clc.4960150314

A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia)

Clin Cardiol. 1992 Mar;15(3):217-9. doi: 10.1002/clc.4960150314.

Authors

B Canciani¹, A Nava, V Toso, B Martini, G Thiene

Affiliation

¹ Department of Cardiology, Medical School, Padua University, Italy.

PMID: 1551270
DOI: 10.1002/clc.4960150314

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Arrhythmias, Cardiac / complications
Arrhythmias, Cardiac / genetics*
Cardiomyopathies / complications
Cardiomyopathies / genetics*
Child
Female
Humans
Male
Middle Aged
Mutation