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.
Highlights
Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy
Arrhythmogenic right ventricular dysplasia is usually inherited as an autosomal dominant trait with incomplete penetrance and variable expression (Basso, 2009)
Several studies have confirmed that Plakophilin 2 (PKP2) gene mutations in patients with ARVD are the most common ones, with a prevalence ranging from 11% to 51%, mainly truncating mutations (Corrado, 2015; Basso, 2009; Dalal, 2006)
Summary
Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy. Early recognition and follow up of this disease can reduce sudden cardiac death burden (Corrado, 2015). Arrhythmogenic right ventricular dysplasia is usually inherited as an autosomal dominant trait with incomplete penetrance and variable expression (Basso, 2009) It is unknown how many cases are caused by de novo mutations (McNally, 2014). Cases with PKP2 mutations are characterized with an earlier age of first clinical presentation and more frequent negative “T” waves in right precordial leads (Alcalde, 2014). The aim of this case presentation is to describe a PKP2 genetic variation that has never been reported in a homozygote form and could possibly be pathogenic
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