The role of genetic investigation in diagnostics of arrhythmogenic right ventricular cardiomyopathy

• Anna G. Shestak
• Elena V. Zaklyazminskaya

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder characterized by fibrous and/or fatty replacement of cardiomyocytes of right ventricle, cases of biventricular replacement are also known. Disease leads to life-threatening arrhythmias and heart failure. It is often that the first and the only symptom of the disease is sudden cardiac death. ARVC can occur with a minimal appearance of clinical symptoms and it can cause delay with diagnosis. ARVC is inherited by autosomal-dominant pattern in most of cases. The disease is genetically heterogeneous; at least 12 genes are known to be associated with ARVC. Since 2010, identification of ARVC-causing mutations was introduced into the list of diagnostic criteria for the disease. Here we present the results of DNA-diagnostics elaboration for ARVC patients in Russia and the way to use molecular results in diagnostic process.

Keywords:arrhythmogenic right ventricular cardiomyopathy, ARVC, desmosomes, PKP2, DSG2

All articles in our journal are distributed under the Creative Commons Attribution 4.0 International License (CC BY 4.0 license)