Bidina, LuizeKupics, KasparsSokolova, EmmaPavlovics, MihailsDobele, ZanePiekuse, LindaKalejs, Oskars2021-08-192021-08-192016Bidina, L, Kupics, K, Sokolova, E, Pavlovics, M, Dobele, Z, Piekuse, L & Kalejs, O 2016, A CASE REPORT : PKP2 GENE C.1592T >G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENT. in CBU INTERNATIONAL CONFERENCE ON INNOVATIONS IN SCIENCE AND EDUCATION : Proceedings. vol. 4, CBU INTERNATIONAL CONFERENCE PROCEEDINGS 2016: INNOVATIONS IN SCIENCE AND EDUCATION, Central Bohemia University, Prague, pp. 631-633, CBU International Conference on Innovations in Science and Educat, Prague, Czech Republic, 23/03/16. https://doi.org/10.12955/cbup.v4.823conference978-80-88042-04-41805-997Xhttps://dspace.rsu.lv/jspui/handle/123456789/6046Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy. Early recognition and follow up of this disease can reduce sudden cardiac death burden. Arrhythmogenic right ventricular dysplasia is usually inherited as an autosomal dominant trait. We report a case of a young woman aged 26 years with a past history of chest pain and palpitations. During examination, abnormalities were found in results of an electrocardiogram and echocardiography. Genetic testing of the plakophilin 2 (PKP2) gene was done by direct sequencing and genetic variation "NG_009000.1: c.1592T>G" was found in a homozygote form. In family member screening in patients, parents' variation is found in a heterozygote form, where both are healthy. In all reports, "c.1592T>G" is reported only in a heterozygous state, with no known pathogenicity. We consider that this is possibly a pathogenic mutation, inherited as an autosomal recessive trait.223454enginfo:eu-repo/semantics/openAccessARVDPKP2cardiovascular genetics1.6 Biological sciences3.2 Clinical medicine3.1. Articles or chapters in proceedings/scientific books indexed in Web of Science and/or Scopus database/dk/atira/pure/researchoutput/researchoutputtypes/contributiontobookanthology/conference10.12955/cbup.v4.823