New Insights Into Genetic Right Ventricular Cardiomyopathies

Abstract

Inherited right ventricular disease in the form of arrhythmogenic right ventricular cardiomyopathy (ARVC) was first described 40 years ago. The ARVC-causing genes have progressively been identified from the year 2000, accompanied by a robust journey of deep phenotyping. The explosion of genotype and phenotype data coupled with a collaborative spirit in the ARVC community has led to an immense advance in our understanding of the various faces of this disease, with a recent focus on gene-specific phenotypes and risk assessment and mitigation. The modern cardiogenetic team has a wealth of information that informs the biology of the disease, its phenotypic expression, and the processes of care to detect the presence and progression of disease. Gene-specific considerations will raise the bar in precision medicine applied to diagnosis, natural history, and potentially curative interventions with targeted small molecules and gene therapy. This is an exciting time for the ARVC collaborative community to usher in a new era in changing the course of ARVC for patients and their families.