Arrhythmogenic Right Ventricular Cardiomyopathy: A Comprehensive Review

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by structural abnormalities, arrhythmias, and a spectrum of genetic and clinical manifestations. Clinically, ARVC is structurally distinguished by right ventricular dilation due to increased adiposity and fibrosis in the ventricular walls, and it manifests as cardiac arrhythmias ranging from non-sustained ventricular tachycardia to sudden cardiac death. Its prevalence has been estimated to range from 1 in every 1000 to 5000 people, with its large range being attributed to the variability in genetic penetrance from asymptomatic to significant burden. It is even suggested that the prevalence is underestimated, as the presence of genotypic mutations does not always lead to clinical manifestations that would facilitate diagnosis. Additionally, while set criteria have been in place since the 1990s, newer understanding of this condition and advancements in cardiac technology have prompted multiple revisions in the diagnostic criteria for ARVC. Novel discoveries of gene variants predisposing patients to ARVC have led to established screening techniques while providing insight into genetic counseling and management. This review aims to provide an overview of the genetics, pathophysiology, and clinical approach to ARVC. It will also focus on clinical presentation, ARVC diagnostic criteria, electrophysiological findings, including electrocardiogram characteristics, and imaging findings from cardiac MRI, 2D, and 3D echocardiogram. Current management options-including anti-arrhythmic medications, device indications, and ablation techniques-and the effectiveness of treatment will also be reviewed.

Keywords: ARVC; VT; arrhythmogenic; cardiomyopathy; cardiovascular disease; congenital; electrophysiology; heart disease; ventricular tachycardia.

Figure 1

Right Ventricular Outflow Tract (RVOT) Ventricular Tachycardia, noted by Inferior Axis (positive QRS in inferior leads, blue brackets) and Left-Bundle Branch Block (blue arrow).

Figure 2

RVOT Ventricular Tachycardia with Inferior Axis (red brackets) and Left-Bundle Branch Block Morphology in V1 (green bracket).

Figure 3

Epsilon Waves noted diffusely, most prominently in 2, 3, aVF, V1–V6 (red arrows). Prolonged S-Wave upstroke exhibited in V1, V2, V3 (blue arrows).

Figure 4

Cardiac Magnetic Resonance Images (MRI) showcasing characteristic fibrofatty infiltration of the right ventricular myocardium (red arrows). (Left) Fat-suppressed contrast-enhanced T1-weighted MRI. (Right) Steady-state free precession (SSFP) MRI.

Figure 5

Electrophysiologic mapping revealing multifocal premature ventricular complexes arising from right ventricular outflow tract (RVOT) septum and free wall in red, and propagating outward, depicted sequentially across the color spectrum in red, orange, yellow, green, blue, and purple, with purple being the furthest from the origin point.