A CASE REPORT : PKP2 GENE C.1592T>G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENT

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dc.contributor.authorBidina, Luize
dc.contributor.authorKupics, Kaspars
dc.contributor.authorSokolova, Emma
dc.contributor.authorPavlovics, Mihails
dc.contributor.authorDobele, Zane
dc.contributor.authorPiekuse, Linda
dc.contributor.authorKalejs, Oskars
dc.contributor.institutionRīga Stradiņš University
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.coverage.spatialPrague
dc.date.accessioned2021-08-19T08:40:01Z
dc.date.available2021-08-19T08:40:01Z
dc.date.issued2016
dc.description.abstractArrhythmogenic 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.en
dc.description.statusPeer reviewed
dc.format.extent223454
dc.identifier.citationBidina, 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.v4.823
dc.identifier.citationconference
dc.identifier.doi10.12955/cbup.v4.823
dc.identifier.isbn978-80-88042-04-4
dc.identifier.issn1805-997X
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/6046
dc.language.isoeng
dc.publisherCentral Bohemia University
dc.relation.ispartofCBU INTERNATIONAL CONFERENCE ON INNOVATIONS IN SCIENCE AND EDUCATION
dc.relation.ispartofseriesCBU INTERNATIONAL CONFERENCE PROCEEDINGS 2016: INNOVATIONS IN SCIENCE AND EDUCATION
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectARVD
dc.subjectPKP2
dc.subjectcardiovascular genetics
dc.subject1.6 Biological sciences
dc.subject3.2 Clinical medicine
dc.subject3.1. Articles or chapters in proceedings/scientific books indexed in Web of Science and/or Scopus database
dc.titleA CASE REPORT : PKP2 GENE C.1592T>G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENTen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontobookanthology/conference

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