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 Pavlovic (), Zane Dobele (), Linda Piekuse () and Oskars Kalejs ()
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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

CBU International Conference Proceedings, 2016, vol. 4, issue 0, 631-633

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.

Keywords: ARVDPKP2; cardiovascular genetics (search for similar items in EconPapers)
Date: 2016
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Persistent link: https://EconPapers.repec.org/RePEc:aad:iseicj:v:4:y:2016:i:0:p:631-633

DOI: 10.12955/cbup.v4.823

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