Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiomyopathy that can lead to sudden cardiac death and heart failure. Our understanding of its pathophysiology and clinical expressivity is continuously evolving. The diagnosis of ARVC/D remains particularly challenging due to the absence of specific unique diagnostic criteria, its variable expressivity, and incomplete penetrance. Advances in genetics have enlarged the clinical spectrum of the disease, highlighting possible phenotypes that overlap with arrhythmogenic dilated cardiomyopathy and channelopathies. The principal challenges for ARVC/D diagnosis include the following: earlier detection of the disease, particularly in cases of focal right ventricular involvement; differential diagnosis from other arrhythmogenic diseases affecting the right ventricle; and the development of new objective electrocardiographic and imaging criteria for diagnosis. This review provides an update on the diagnosis of ARVC/D, focusing on the contribution of emerging imaging techniques, such as echocardiogram/magnetic resonance imaging strain measurements or computed tomography scanning, new electrocardiographic parameters, and high-throughput sequencing.