Abstract 16150: Desmoplakin Missense vs Non-missense Mutations: Genotype-phenotype Correlations in Arrhythmogenic Right Ventricular Cardiomyopathy

Introduction: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease characterized by risk for sudden cardiac death (SCD) and fibro-fatty replacement primarily of the right ventricle but, in some cases, also of the left ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations focusing on risk assessment are scant and, with few exceptions, not gene-specific. Objectives: This study aimed to assess the genotype-phenotype correlation in the setting of ARVC-causative desmoplakin (DSP) missense and non-missense mutations. Methods: We included 27 patients fulfilling clinical criteria for ARVC (according to the 2010 guidelines) carrying either a missense or a non-missense DSP mutation. The identification of an additional mutation in other major ARVC genes was an exclusion criterion. All patients underwent a complete clinical assessment. Results: Ten patients carried missense variants, while 17 carried non-missense DSP variants....