Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report

BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expert knowledge. Genetic testing of index patients is helpful in the primary diagnosis and further testing of family members may allow for prevention of sudden cardiac death. CASE PRESENTATION: We report a case of newly diagnosed ARVC where genetic testing identified a novel familial frame-shift mutation in the PKP2 gene. Screening of the family members identified both children and the father as mutation carriers following an autosomal-dominant inheritance pattern. CONCLUSION: Our findings emphasize the importance of genetic family screening after the identification of a causative mutation in an index case.