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

Luize Bidina, Kaspars Kupics, Emma Sokolova, Mihails Pavlovics, Zane Dobele, Linda Piekuse, Oskars Kalejs

Research output: Contribution to journalArticlepeer-review

Abstract

Arrhythmogenic 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.
Original languageEnglish
Pages (from-to)631-633
JournalCBU INTERNATIONAL CONFERENCE PROCEEDINGS 2016: INNOVATIONS IN SCIENCE AND EDUCATION
Volume4
DOIs
Publication statusPublished - 2016
EventCBU International Conference on Innovations in Science and Educat - Prague, Czech Republic
Duration: 23 Mar 201625 May 2016

Keywords

  • ARVD
  • PKP2
  • cardiovascular genetics

Field of Science

  • 1.6 Biological sciences
  • 3.2 Clinical medicine

Publication Type

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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