Arrhythmogenic right ventricular cardiomyopathy/dysplasia: An update

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle (RV). The diagnosis is based on the International Task Force criteria. Cardiologists may not be aware of these diagnostic criteria for ARVC/D and may place too much importance on the results of MRI imaging of the right ventricle. Patients with ARVC/D usually have an abnormal 12-lead electrocardiogram, abnormal echocardiogram, and ventricular arrhythmias with a left bundle branch block morphology. If noninvasive testing suggests ARVC/D, invasive testing with an RV angiogram, RV biopsy, and electrophysiologic study is recommended. Once a diagnosis of ARVC/D is established, the main treatment decision involves whether to implant an implantable cardioverter-defibrillator. We also recommend treatment with beta blockers. Patients with ARVC/D are encouraged to avoid competitive athletics. Recent advances in the understanding of the genetic basis of ARVC/D have revealed that ARVC/D is a disease of desmosomal dysfunction.

Maturation-Based Model of Arrhythmogenic Right Ventricular Dysplasia Using Patient-Specific Induced Pluripotent Stem Cells

“…Currently, no therapy is available to stop the progression of ARVD pathologies except inserting electronic cardiac defibrillators to prevent sudden cardiac death. 22 The pathogenic mechanisms by which desmosomal mutations cause CM loss, fibrofatty infiltration and lethal arrhythmia remain poorly understood. Experimental data from animal and cultured cell line models led to confusing and conflicting results.…”

Atypical Presentation of Right Ventricular Outflow Tract Ventricular Tachycardia

“…Patients with an ECG pattern characteristic of RVOT-VT require a cardiology referral and thorough evaluation to rule out structural heart disease. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), an inherited cardiomyopathy, can also present as LBBB-type VT with an inferior axis, and is associated with increased risk of sudden death (11). Differentiating between RVOT-VT and ARVD/C is challenging and involves SAECG analysis as well as advanced cardiac imaging, such as echocardiogram, MRI, or RV angiogram.…”

Implantable Defibrillators in Long QT Syndrome, Brugada Syndrome, Hypertrophic Cardiomyopathy, and Arrhythmogenic Right Ventricular Cardiomyopathy

“…It affects 1 in 1000 to 1 in 5000 individuals 79 with prevalence varying in different communities. It is diagnosed at mean age of 31 years and is more common in men.…”