Arrhythmogenic right ventricular cardiomyopathy: DNA-diagnostics development and clinical case

• Elena V. Zaklyazminskaya
• Anna G. Shestak
• M.V. Noskova
• S.A. Alexandrova
• Sergey L. Dzemeshkevich

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder characterized by progressive fatty and fibrous replacement of cardiomyocytes, and leading to life-threatening arrhythmias and heart failure. At least 12 different loci are known to be associated with ARVC. Recently, results of molecular genetic study were incorporated into the diagnostic protocol (Marcus, 2010) as a major criterion. Up to this time, DNA diagnostics of ARVC was not available in Russia. We did elaborate protocols of PCR-based Senger sequencing of 7 main causal genes (PKP2, DSG2, DSP, DSC2, TMEM43, TGFB3, and JUP2) and introduced this diagnostics into clinical practice in our Centre. Here we present a clinical case of ARVC in 34 y.o. male patient with progressive cardiomyopathy, persistent ventricular arrhythmias underwent two inefficient radio-frequency ablation procedures, ICD implantation, and complex anti-arrhythmic therapy. We did identify a new mutation, frame-shift 16 bp deletion с.1523_1538del, in PKP2 gene in proband. Molecular diagnostics for relatives is in progress now.

Keywords:аrrhythmogenic right ventricular cardiomyopathy (ARVC), desmosomes, PKP2 gene, genetic testing in cardiology

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