title: Phenotypic expression of ARVC: How 12 lead ECG can predict left or right ventricle involvement. A familiar case series and a review of literature.
abstract: OBJECTIVE
  Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease primarily affecting the right ventricle (RV) and potentially causing sudden death in young people. The natural history of the disease is firstly characterized by a concealed form progressing over a biventricular involvement. Three different cases coming from the same family are presented together with a review of the literature.
  
  
  RESULTS
  Multi-parameter analysis including imaging and electrocardiographic analysis is presented since the first medical referral with follow-up ranging from 11 to 38years. Case 1 presented a typical RV involvement in agreement with the ECG pattern. Case 2 presented a prevalent left ventricular involvement leading from the beginning to a pattern of dilated cardiomyopathy in agreement with his ECG evolution over the years. On the other side, Case 3 came to observation with a typical RV involvement (similar to Case 1) but with ECG evolution of typical left ventricle involvement (similar to Case 2). The genetic analysis showed a mutation in desmoglein-2 (DSG2) gene: p. Arg49His. Comparison between size and localization of ventricular dyskinesia at cardiovascular imaging and the surface 12 lead electrocardiography are proposed.
  
  
  CONCLUSIONS
  ARVC may lead to an extreme phenotypic variability in clinical manifestations even within patients coming from the same family in which ARVC is caused by the same genetic mutation. ECG progression over time reflects disease evolution and in particular cases may anticipate wall motion abnormalities by years.
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Gaido
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy. Electronic address: alberto.battaglia1986@gmail.com.
authors.forename: Alberto
authors.initials: A
authors.lastname: Battaglia
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Matta
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Giustetto
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Frea
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Imazio
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Richiardi
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Garberoglio
authors.affiliation: Division of Cardiology, University of Turin, Department of Medical Sciences, "Città della Salute e della Scienza" Hospital, Turin, Italy.
authors.forename: Fiorenzo
authors.initials: F
authors.lastname: Gaita
mesh_terms: D000368:Aged; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000000981:diagnostic imaging / Q000503:physiopathology*; D004562:Electrocardiography / Q000295:instrumentation*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000503:physiopathology*; D018497:Ventricular Dysfunction, Right / Q000000981:diagnostic imaging / Q000503:physiopathology*
keywords: Arrhythmogenic Right Ventricular Cardiomyopathy; Desmoglein 2; Electrocardiographic progression; Global longitudinal strain; Magnetic resonance