A CASE OF DNA-DIAGNOSTICS APPLICATION FOR ARRHYTHMOGENIC RIGHT VENTRICLE CARDIOMYOPATHY

Abstract

Aim. Analysis of the results of DNA-diagnostics in practice, for the two most common types of arrhythmogenic cardiomyopathies of the right ventricle (ACRV) in cardiovascular and surgery setting.Material and methods. Clinical and laboratory study performed, of the selection of 38 patients with a diagnosis at presentation — ACRV, with consequent genetic counseling and DNA-diagnostics for 2 most common types of ACRV.Results. Mutations in two genes responsible for the most common ACRV types, were found in 22,9% of patients. Analysis of occurrence rate was done for mutations in groups with definite, probable and possible diagnoses of ACRV, and of total impact of genetic data on diagnostics of the disease.Conclusion. Data obtained on the Russian selection of patients shows similarity with the data on prevalence of two most common genetic forms of ACRV in other ethnicities.

Keywords

• right ventricle arrhythmogenic cardiomyopathy
• medical genetic counseling
• cascade family screening