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PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients [Anatol J Cardiol]
Anatol J Cardiol. 2018; 20(5): 296-302 | DOI: 10.14744/AnatolJCardiol.2018.35984  

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients

Luize Bidina1, Kaspars Kupics2, Emma Sokolova3, Mihails Pavlovics4, Zane Dobele1, Laima Caunite3, Oskars Kalejs2, Linda Gailite1
1Scientific Laboratory of Molecular Genetics; Riga-Latvia
2Department of Arrhytmology, Pauls Stradins Clinical University Hospital; Riga-Latvia
3Department Cardiology, Pauls Stradins Clinical University Hospital; Riga-Latvia
4Department of Surgery, Pauls Stradins Clinical University Hospital; Riga-Latvia

Objective: The Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD-C) registry was established to determine the genetic background of ARVD-C for analyzing discovered genetic variation frequencies in the European and Latvian populations.
Methods: In total, 38 patients with suspected ARVD-C were selected. The clinical parameters were defined according to the ARVD-C guidelines, PKP2 and DSG2 gene analysis was performed using the Sanger sequencing. Additionally, large deletions/duplications were analyzed using the multiplex ligation-dependent probe amplification (MLPA) analysis.
Results: Twenty symptomatic patients were enrolled in the study. Typical ARVD abnormalities were found in electrocardiography for 10 (50%) patients, in Holter monitoring for 19 (95%), in transthoracic echocardiography for 20 (100%), and in cardiac magnetic resonance for 6 (30%). Different benign genetic variations were found. Three novel, unregistered, possibly benign variations were found in the PKP2 gene: c.2489+131G>A, c.2489+72delA, and c.1035-5T>C and three in the DSG2 gene: c.404G>A, c.1107G>A, and c.379-15A>G. Two genetic variations in the PKP2 gene: c.1592T>G, c.2489+1G>A are possibly pathogenic. For the first time, variation c.1592T>G, has been discovered in the homozygote form. Using the MLPA analysis, large deletions or duplications were not found.
Conclusion: The prevalence of the majority of non-pathological genetic variations is similar in the Latvian ARVD-C patients and the European population. Possibly, pathogenic variations were found only in 10% of our registry patients, which could mean that PKP2 and DSG2 are not the most commonly affected genes in the Latvian population.

Keywords: arrhythmogenic right ventricular dysplasia-cardiomyopathy, ARVD-C, cardiomyopathy, genetics, PKP2, arrhythmia


Luize Bidina, Kaspars Kupics, Emma Sokolova, Mihails Pavlovics, Zane Dobele, Laima Caunite, Oskars Kalejs, Linda Gailite. PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients. Anatol J Cardiol. 2018; 20(5): 296-302

Corresponding Author: Luize Bidina, Latvia


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