Marta Pérez-Hernández, Chantal J M van Opbergen, Navratan Bagwan, Christoffer Rasmus Vissing, Grecia M Marrón-Liñares, Mingliang Zhang, Estefania Torres Vega, Andrea Sorrentino, Lylia Drici, Karolina Sulek, Ruxu Zhai, Finn B Hansen, Alex H Christensen, Søren Boesgaard, Finn Gustafsson, Kasper Rossing, Eric M Small, Michael J Davies, Eli Rothenberg, Priscila Y Sato, Marina Cerrone, Thomas Hartvig Lindkær Jensen, Klaus Qvortrup, Henning Bundgaard, Mario Delmar, Alicia Lundby
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by high propensity to life-threatening arrhythmias and progressive loss of heart muscle. More than 40% of reported genetic variants linked to ARVC reside in the PKP2 gene, which encodes the PKP2 protein (plakophilin-2). METHODS: We describe a comprehensive characterization of the ARVC molecular landscape as determined by high-resolution mass spectrometry, RNA sequencing, and transmission electron microscopy of right ventricular biopsy samples obtained from patients with ARVC with PKP2 mutations and left ventricular ejection fraction >45%...
September 13, 2022: Circulation