• Luize Bidina Riga Stradins university
  • Kaspars Kupics Pauls Stradins Clinical University Hospital,
  • Emma Sokolova Pauls Stradins Clinical University Hospital,
  • Mihails Pavlovic Pauls Stradins Clinical University Hospital,
  • Zane Dobele Riga Stradins university
  • Linda Piekuse Riga Stradins university
  • Oskars Kalejs Riga Stradins university
Keywords: ARVD, PKP2, cardiovascular genetics


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.


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