Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare disease characterized by progressive fibrofatty replacement of the myocardium, primarily involving the right ventricle (RV). The structural changes in the ventricular myocardium form a substrate for ventricular arrhythmia ranging from premature ventricular complexes to ventricular tachycardia typically of RV origin and may result in RV failure and progress to congestive heart failure at a later stage. ARVC/D is a recognized cause of sudden cardiac death in young people, but it may occur at any age. With the discovery of underlying pathogenic mutations involved in the disease development and insight from long-term follow-up of ARVC/D patients, ARVC/D is an inherited cardiomyopathy. Mutations in at least eight genes have been involved in ARVC/D genesis in 30-50% of patients. Most of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. Mutations in the genes responsible for ARVC/D often impair the normal desmosomal function. There has been significant advancement in the diagnosis and management of ARVC/D in the past few decades. This chapter provides an overview of ARVC/D pathophysiology, clinical presentations, diagnosis, and management.

Arrhythmogenic Cardiomyopathy of the Right Ventricle: Clinical and Physiopathological Aspects

“…In addition to its structural role, the intercalated disc is also fundamental for electrical coupling between cells, mediated by sodium and potassium ion channels. A deficit in sodium current can decrease the speed of phase 0 of the action potential, resulting in a combination of progressive cardiomyopathy and ventricular arrhythmias (SHAH, et al, 2024).…”

“…Regarding pathophysiology, there is an impairment of the intercalated discs between cardiac cells, which promotes a decrease in the action potential velocity during muscle contraction. This results in a progressive cardiomyopathy associated with ventricular arrhythmias (SHAH, et al, 2024).…”

Supraventricular Tachy-arrhythmia Revealing an Arrhythmogenic Right Ventricle Cardiomyopathy in An Adolescent: Case Report

“…However, mutations in other genes (non-desmosomal genes) have also been reported in ARVC, including transmembrane protein 43 (TMEM43), desmin (DES), and titin (TTN), indicating genetic heterogeneity" [4]. "Several cases of ARVC have been found to be caused by multiple mutations in the same gene (compound heterozygosity) or by mutations in different genes (digenic inheritance), which could lead to earlier onset and greater severity of the disease" [5].…”