Risk Stratification In Arrhythmogenic Right Ventricular Cardiomyopathy: An Integrative Approach Towards Gene-Specific Insights

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy associated with an increased risk of ventricular arrhythmias (VA) and sudden cardiac death. The current cornerstone of ARVC management is the placement of implantable cardioverter defibrillators (ICDs). The ARVC risk calculator is a modern risk stratification tool that can be used in patients with ARVC and no previous sustained arrhythmias to estimate the 5-yr risk of sustained VA events and to help guiding ICD placement at the time of disease diagnosis. This thesis discusses the process of external validation, subsequent algorithm refinement, and longitudinal follow-up recalibration of the ARVC Risk Calculator tool. Specific insights on its use in left-dominant ARVC phenotypes and in patients with a desmoplakin (DSP) pathogenic variants are discussed, as well as its integration with results retrieved from programmed ventricular stimulation procedures.