Title of article :
PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients
Author/Authors :
Bidina, Luize Scientific Laboratory of Molecular Genetics - Riga - Latvia , Kupics, Kaspars Department of Arrhytmology - Pauls Stradins Clinical University Hospital - Riga - Latvia , Sokolova, Emma Department Cardiology - Pauls Stradins Clinical University Hospital - Riga – Latvia , Pavlovics, Mihails Department of Surgery - Pauls Stradins Clinical University Hospital - Riga - Latvia , Dobele, Zane Scientific Laboratory of Molecular Genetics - Riga - Latvia , Caunite, Laima Department Cardiology - Pauls Stradins Clinical University Hospital - Riga – Latvia , Kalejs, Oskars Department of Arrhytmology - Pauls Stradins Clinical University Hospital - Riga - Latvia , Gailite, Linda Scientific Laboratory of Molecular Genetics - Riga - Latvia
Pages :
7
From page :
296
To page :
302
Abstract :
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:
Keywords :
arrhythmogenic right ventricular dysplasia-cardiomyopathy , ARVD-C , cardiomyopathy , genetics , PKP2 , arrhythmia
Journal title :
The Anatolian Journal of Cardiology: Andolu Kardiyoloji Dergisi
Serial Year :
2018
Full Text URL :
Record number :
2615996
Link To Document :
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