Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

ABSTRACT:

Objectives

The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC).

Background

Arrhythmogenic right ventricular cardiomyopathy, characterized by right ventricular fibrofatty replacement and arrhythmias, causes sudden death. Autosomal dominant inheritance, reduced penetrance, and 7 desmosome-encoding causative genes are known. The basis of low penetrance is poorly understood.

Methods

Arrhythmogenic right ventricular cardiomyopathy probands and family members were enrolled, blood was obtained, lymphoblastoid cell lines were immortalized, deoxyribonucleic acid was extracted, polymerase chain reaction (PCR) amplification of desmosome-encoding genes was performed, PCR products were sequenced, and diseased tissue sampl

SUBMITTER: Xu T 

PROVIDER: S-EPMC2852685 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature