Arrhythmogenic Right Ventricular Cardiomyopathy: The Role of Genetics in Diagnosis, Management, and Screening

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a predominantly autosomal dominant genetic condition in which fibrous and fatty tissue infiltrate and replace healthy myocardial tissue. This uncommon yet debilitating condition can cause ventricular arrhythmias, cardiac failure, and sudden cardiac death. Management focuses primarily on prevention of syndrome sequelae in order to prevent morbidity and mortality. Genetic testing and screening in affected families, although utilized clinically, has not yet been incorporated in guidelines due to lack of larger studies and data. We aim herein to identify causative gene mutations, present advancements in diagnosis and management, and describe the role of genetic screening and counseling in patients with ARVC. With the advancement of genetic testing and therapy, diseases such as ARVC may become more accurately diagnosed and more effectively managed, ultimately significantly reducing morbidity and mortality.

Evaluating Catheter Ablation Versus Conventional Management for Ventricular Arrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy: A Five-Year Retrospective Cohort Study

“…Our findings demonstrate a significant reduction in the recurrence of ventricular arrhythmias in the catheter ablation group compared to the control group. This reduction underscores the importance of a targeted therapeutic approach in ARVC management, aligning with the evolving paradigm of precision medicine in cardiology [ 2 , 3 ].…”

“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents a unique clinical challenge characterized by the progressive replacement of right ventricular myocardial tissue with fibro-fatty material. This genetic disorder is a notable cause of ventricular arrhythmias and sudden cardiac death, especially in young adults and athletes, making it a focal point of cardiovascular research and clinical intervention strategies [1,2]. Despite considerable advancements in understanding ARVC's genetic underpinnings and clinical manifestations, the pathophysiology and disease progression remain incompletely elucidated, complicating effective management and treatment [3,4].…”

Individuals with a previous symptomatic COVID-19 infection have altered heart rate and blood pressure variability during acute exercise

“…These issues can be exacerbated even further by conditions that often go undetected such as hypertrophic cardiomyopathy, which can contribute to sports-associated sudden death ( Mascia et al, 2021 ). Along these same lines genetic test and echocardiography performed early in an athlete’s career can lead to improvements the management of genetic conditions such right ventricular arrhythmogenic cardiomyopathy ( Odak et al, 2022 ). Collectively, our data along with previous data demonstrating potential changes to athlete’s hearts who were COVID-19 positive ( de Abreu, 2022 ) suggests the need for improvements in the medical screening process for individuals prior to the initiation exercise or sport.…”

Recurrent Syncope in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy

“…ARVC is typically considered an autosomal dominant hereditary disease with reduced penetrance and is associated with ventricular tachyarrhythmias, SCD, and heart failure [ 6 ]. Abnormal cardiac desmosomes, such as plakophilin-2 (PKP2), desmoglein-2 (DSG2), desmoplakin (DSP), and plakoglobin (JUP), drive the pathogenesis, progressively leading to cardiomyocyte necrosis, fibrofatty tissue replacement, and ventricular dilation [ 7 ].…”