title: Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Our findings emphasize the importance of genetic family screening after the identification of a causative mutation in an index case.
authors.affiliation: Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, Munich, Germany. teresa.trenkwalder@gmail.com.|Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK) e.V., Partner Site Munich Heart Alliance, Munich, Germany. teresa.trenkwalder@gmail.com.
authors.forename: Teresa
authors.initials: T
authors.lastname: Trenkwalder
authors.affiliation: Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, Munich, Germany. deisenhofer@dhm.mhn.de.|Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK) e.V., Partner Site Munich Heart Alliance, Munich, Germany. deisenhofer@dhm.mhn.de.
authors.forename: Isabel
authors.initials: I
authors.lastname: Deisenhofer
authors.affiliation: Klinik für Radiologie und Nuklearmedizin, Deutsches Herzzentrum München, Technische Universität München, Munich, Germany. mhy@dhm.mhn.de.
authors.forename: Martin
authors.initials: M
authors.lastname: Hadamitzky
authors.affiliation: Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, Munich, Germany. schunkert@dhm.mhn.de.|Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK) e.V., Partner Site Munich Heart Alliance, Munich, Germany. schunkert@dhm.mhn.de.
authors.forename: Heribert
authors.initials: H
authors.lastname: Schunkert
authors.affiliation: Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, Munich, Germany. wibke.hengstenberg@gmx.de.|Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK) e.V., Partner Site Munich Heart Alliance, Munich, Germany. wibke.hengstenberg@gmx.de.
authors.forename: Wibke
authors.initials: W
authors.lastname: Reinhard
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006801:Humans; D010375:Pedigree; D051191:Plakophilins / Q000235:genetics*
chemical_list: C495337:PKP2 protein, human; D051191:Plakophilins