Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts

Alexia Vite (1) , Estelle Gandjbakhch (2, 1) , Catherine Prost , Véronique Fressart (2) , Pierre Fouret (2) , Nathalie Neyroud (1) , Françoise Gary (1) , Erwan Donal (3) , Shaida Varnous (2) , Guy Fontaine , Paul Fornès (4) , Françoise Hidden-Lucet (2) , Michel Komajda (5, 1) , Philippe Charron (2, 1) , Eric Villard (1)

1 Génétique, pharmacologie et physiopathologie des maladies cardiovasculaires [CHU Pitié-Salpétriêre]
2 CHU Pitié-Salpêtrière [AP-HP]
3 LTSI - Laboratoire Traitement du Signal et de l'Image
4 Service d'anatomo-pathologie [CHU HEGP]
5 ESC - Société Européenne de Cardiologie

Arrhythmogenic right ventricular Dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited cardiomyopathy associated with ventricular arrhythmia, heart failure and sudden death. Genetic studies have demonstrated the central role of desmosomal proteins in this disease, where 50% of patients harbor a mutation in a desmosmal gene. However, clinical diagnosis of the disease remains difficult and molecular mechanisms appears heterogeneous and poorly understood. The aim of this study was to characterize the expression profile of desmosomal proteins in explanted ARVD/C heart samples, in order to identify common features of the disease.

Domaines: Cardiologie et système cardiovasculaire

Alexia Vite, Estelle Gandjbakhch, Catherine Prost, Véronique Fressart, Pierre Fouret, et al.. Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts. PLoS ONE, 2013, 8 (9), pp.e75082. ⟨10.1371/journal.pone.0075082⟩. ⟨hal-02330952⟩