PKP2 as a main cause of Arrhythmogenic right ventricular dysplasia in Iran: An update of the mutations around the world

PKP2 mutations are the main cause of ARVC/D. Plakophilin-2 is a component of desmosomes and important for myocyte interactions. Here, genetic study of Iranian patients with ARVC/D is presented for the first time. An update of PKP2 mutations and in silico analyses of the reported variants are also presented.Clinical evaluations, pedigree diagram, 2-dimentional echocardiography, 12 lead ECG, signal averaged ECG and genetic investigations were performed for enrolled patients. A comprehensive literature survey of the previously reported mutation was conducted to present an update of PKP2 mutations.

Source: Cardiovascular Pathology - May 5, 2018 Category: Cardiology Authors: Nejat Mahdieh, Nasim Najafi, Mahdieh Soveizi, Sedigheh Saeidi, Fereidoon Noohi, Majid Maleki, Bahareh Rabbani Source Type: research