Arrhythmogenic Right Ventricular Cardiomyopathy

Treat sustained ventricular tachycardia, ventricular fibrillation, or syncope suspected to be arrhythmic as an urgent electrophysiology problem. ARVC commonly presents through PVCs, nonsustained or sustained VT, or ventricular fibrillation; advanced disease may instead declare itself through exertional dyspnea or volume overload. ACCACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of Cardiology

Refer promptly to an inherited cardiomyopathy or electrophysiology program when a patient has ventricular arrhythmias with RV-predominant structural abnormalities, right-precordial repolarization abnormalities, a first-degree relative with ARVC, or a pathogenic/likely pathogenic variant in an ARVC-associated gene. The diagnostic process requires integration of ECG, ambulatory monitoring, echocardiography, CMR, genetic testing, and selected family data; endomyocardial biopsy is rarely required. ACCACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of Cardiology

Do not use routine electrophysiology testing to establish ARVC. Reserve invasive EP study for VT ablation planning or performance in conjunction with ablation rather than as a general diagnostic test. ACCACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of Cardiology

The 2010 modified Task Force Criteria organize evidence across RV structural or functional abnormalities, repolarization and depolarization abnormalities, ventricular arrhythmias, tissue characterization, and family history or genetics. A single feature has limited diagnostic accuracy; diagnosis relies on concordant abnormalities across domains. AHA Journals+1AHA JournalsEvolving Diagnostic Criteria for Arrhythmogenic CardiomyopathyACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of Cardiology

For classical ARVC, the ACC summary describes a point-based approach in which definite disease is assigned at 4 points and probable disease at 3 points. Apply this framework only after ensuring that the phenotype is not better explained by acquired RV remodeling, another cardiomyopathy, congenital disease, ischemia, sarcoidosis, or myocarditis. ACCACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of Cardiology

Recognize the limitation of a purely RV-centered framework. The 2010 criteria have reduced sensitivity for left-sided ACM variants and do not incorporate CMR late gadolinium enhancement, whereas contemporary Padua criteria recognize right-dominant, left-dominant, and biventricular ACM. In a patient with LV scar or dysfunction out of proportion to RV disease, broaden the diagnostic label and differential rather than excluding arrhythmogenic cardiomyopathy. AHA Journals+3AHA JournalsArrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated CardiomyopathyAHA JournalsEvolving Diagnostic Criteria for Arrhythmogenic CardiomyopathyjaccPrecision Phenotyping in Arrhythmogenic Cardiomyopathy: What’s in a Name?∗ACCCardiac MRI in the Diagnosis of Arrhythmogenic Cardiomyopathy - American College of Cardiology

Order CMR when echocardiography or arrhythmia findings suggest ARVC, when the RV is poorly characterized by echo, or when LV involvement is suspected. In pediatric evaluation using revised Task Force Criteria, CMR made the largest contribution among major criteria; regional wall-motion abnormalities were much more prevalent in definite than in no-ARVC groups. jaccjaccImportance of CMR Within the Task Force Criteria for the Diagnosis of ARVC in Children and Adolescents

Assess both ventricles for regional wall-motion abnormality, RV volumes and ejection fraction, LV function, and late gadolinium enhancement. LV involvement in ARVC is common and may occur earlier than previously recognized; biventricular and left-dominant variants can resemble dilated cardiomyopathy. AHA Journals+2AHA JournalsArrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated CardiomyopathyjaccPrecision Phenotyping in Arrhythmogenic Cardiomyopathy: What’s in a Name?∗ACCCardiac MRI in the Diagnosis of Arrhythmogenic Cardiomyopathy - American College of Cardiology

Treat marked athletic exposure as a diagnostic confounder rather than presumptive inherited ARVC. Exercise-induced arrhythmogenic cardiomyopathy has been proposed in competitive endurance athletes with substantial cumulative exposure, ventricular arrhythmias, and no inherited/genetic factors or other evident cause. In one cohort, RV structure and function remained stable in exercise-induced disease but deteriorated during follow-up in genotype-positive ARVC; ventricular-arrhythmia incidence was similar at 5 and 10 years. jaccjaccDisease Progression in Exercise-Induced Arrhythmogenic Cardiomyopathy Compared With Arrhythmogenic Right Ventricular Cardiomyopathy

When CMR shows predominant LV scar or a myocarditis-like clinical course, do not force a classical ARVC diagnosis. Contemporary outcomes data associate substantial LV involvement with more heart failure and myocarditis-like episodes, whereas right-dominant disease appears more arrhythmogenic. jaccjaccPrecision Phenotyping in Arrhythmogenic Cardiomyopathy: What’s in a Name?∗

Offer genetic counseling and consider genetic testing in patients with suspected or established ARVC, particularly when there is a family history of inherited arrhythmia syndrome or arrhythmogenic cardiomyopathy. Desmosomal genes account for more than half of reported ARVC cases; commonly implicated genes include PKP2, DSP, DSG2, DSC2, and JUP, with non-desmosomal contributors including TMEM43, DES, PLN, TTN, and RYR2. Nature+2NatureGenotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis | Scientific ReportsWileyArrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management - Muller - 2025 - Journal of Cardiovascular Electrophysiology - Wiley Online LibraryACC2023 HRS Guidance on Management of Arrhythmias During Pregnancy: Key Points - American College of Cardiology

Interpret pathogenic or likely pathogenic results in the clinical context. ARVC is incompletely penetrant, and penetrance is markedly lower among individuals identified through genomic screening than in disease-ascertained populations; a genotype-positive, phenotype-negative person should receive counseling and longitudinal clinical surveillance rather than automatic disease labeling or primary-prevention ICD implantation. Nature+1NatureGenotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis | Scientific ReportsjaccGenome-First Arrhythmogenic Right Ventricular Cardiomyopathy ...

For relatives, perform phenotype assessment with ECG, ambulatory rhythm monitoring, echocardiography, and CMR when indicated by the family phenotype or initial findings. The purpose is to identify electrical or structural expression early, recognizing that ARVC can involve both ventricles and that phenotype may evolve over time. AHA Journals+2AHA JournalsArrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated CardiomyopathyACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of CardiologyACC2023 HRS Guidance on Management of Arrhythmias During Pregnancy: Key Points - American College of Cardiology

Recommend avoidance of endurance sports and high-intensity sustained exercise in established ARVC and counsel genotype-positive desmosomal variant carriers similarly. Exercise is a disease modifier: individuals participating in endurance sports become symptomatic earlier and are more likely to develop overt disease expression. AHA Journals+1AHA JournalsArrhythmogenic Cardiomyopathy | Circulation ResearchAHA JournalsArrhythmogenic Cardiomyopathy

Use ICD therapy as the principal sudden-death prevention strategy for symptomatic and high-risk patients, while recognizing that antiarrhythmic drugs and catheter ablation are adjunctive strategies for recurrent ventricular arrhythmias rather than substitutes for risk-directed defibrillator protection. ScienceDirect+1ScienceDirectUse of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy - ScienceDirectACCUnderstanding Arrhythmogenic RV Cardiomyopathy: Key Points - American College of Cardiology

For patients diagnosed by 2010 Task Force Criteria who have not yet had a ventricular-arrhythmia event, incorporate the ARVCrisk calculator into shared decision-making. In a 429-patient validation cohort, 24% experienced a ventricular-arrhythmia event over 5 years, corresponding to an annual event rate of 5%; sudden cardiac arrest and sudden cardiac death occurred in 6.8% and 2.9%, respectively. The model showed a C-index of 0.70 and outperformed several guideline or consensus approaches in decision-curve analysis for ICD use. ACCACCArrhythmic Risk Prediction in ARVC - American College of Cardiology

Discuss the tradeoff explicitly: a projected arrhythmic benefit must justify long-term ICD complications and treatment burden, especially in younger patients and those without prior sustained ventricular arrhythmia. Risk models refine but do not replace phenotype review, patient values, and specialist electrophysiology assessment. ACCACCArrhythmic Risk Prediction in ARVC - American College of Cardiology