Management of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
All patients with clinically diagnosed ARVC must immediately stop intensive exercise and competitive sports, start beta-blocker therapy, and undergo cardiac MRI for diagnosis confirmation and risk stratification. 1
Immediate Diagnostic Workup
Cardiac MRI is the essential first imaging test when ARVC is suspected, as it provides superior visualization of right ventricular structural abnormalities, regional wall motion defects, and can detect fibrofatty replacement that echocardiography often misses. 1, 2 This is a Class I recommendation with B-NR level of evidence.
Required Baseline Testing
12-lead ECG in sinus rhythm looking specifically for: T-wave inversions in V1-V3 (beyond age 14), epsilon waves (small deflections after QRS in V1-V3), QRS duration >110ms in V1-V3, and prolonged terminal activation duration >55ms. 2, 3
24-48 hour Holter monitoring to detect and quantify ventricular arrhythmias, particularly premature ventricular contractions with left bundle branch block morphology. 2, 4
Signal-averaged ECG can be useful for both diagnosis and risk stratification (Class IIa recommendation). 1, 2
Exercise stress testing as ventricular arrhythmias in ARVC are typically exercise-induced. 5, 6
Mandatory Lifestyle Modification
Complete avoidance of intensive exercise and competitive sports is a Class I recommendation for all patients with clinical diagnosis of ARVC. 1 This includes exclusion from competitive athletics and vigorous training. 5, 6 The European Association of Preventive Cardiology states that athletes with unequivocal or probable ARVC diagnosis should not participate in competitive sports and should limit exercise to leisure-time activities only. 1
Pharmacologic Management
Beta-blockers are mandatory first-line therapy (Class I recommendation) for all ARVC patients with documented ventricular arrhythmias. 1, 2, 4
Beta-blockers can also be useful (Class IIa recommendation) even in patients with clinical evidence of ARVC but without documented ventricular arrhythmias yet. 1, 2
For patients requiring additional arrhythmia suppression beyond beta-blockers, sotalol is preferred as first-line add-on therapy, with amiodarone reserved for refractory cases. 6 Amiodarone has shown superior efficacy compared to beta-blockers and sotalol alone in observational studies. 4
ICD Implantation Decision Algorithm
Class I Indications (ICD Recommended)
Implant ICD immediately if the patient has ANY of the following high-risk markers AND meaningful survival >1 year is expected: 1, 2, 4
- Resuscitated sudden cardiac arrest
- Sustained ventricular tachycardia (spontaneous)
- Significant ventricular dysfunction with RVEF or LVEF ≤35%
Class IIa Indications (ICD Can Be Useful)
Consider ICD implantation for: 1, 2, 4
- Syncope presumed due to ventricular arrhythmia
- Extensive disease with left ventricular involvement
- One or more affected family members with sudden cardiac death
Electrophysiology Study Role
EP study may be considered (Class IIb) for risk stratification in asymptomatic patients with clinical evidence of ARVC, though its role remains poorly defined. 1, 2 The EP study can help differentiate ARVC from benign RVOT tachycardia or cardiac sarcoidosis. 2
Catheter Ablation
Catheter ablation with combined endocardial/epicardial approach can be beneficial (Class IIa recommendation) for patients with recurrent symptomatic sustained VT when beta-blockers are ineffective or not tolerated. 1, 2, 4 However, this is primarily a palliative strategy to reduce ICD shocks, not curative therapy, as VT recurrences from new foci are common due to disease progression. 6
Genetic Testing and Family Screening
Genetic counseling and testing are useful (Class IIa recommendation) for diagnosis and gene-specific targeted family screening in clinically diagnosed or suspected ARVC. 1, 2, 4 Most cases involve autosomal dominant mutations in desmosomal proteins (plakophilin-2, desmoplakin, desmoglein-2, desmocollin-2, plakoglobin). 4
Clinical screening of first-degree relatives is mandatory (Class I recommendation) including ECG, echocardiography, and genetic testing if the proband has an identified disease-causing mutation. 1, 4
Critical Caveat for Genotype-Positive/Phenotype-Negative Athletes
Athletes who are genetic carriers of pathogenic ARVC-associated desmosomal mutations should not participate in competitive sports even in the absence of phenotypic disease expression, as exercise accelerates disease penetrance. 1 These individuals should limit activity to leisure-time exercise and remain under clinical surveillance. 1
Ongoing Monitoring Strategy
Periodic reassessment is necessary as ARVC is a progressive disease with evolving structural and electrical abnormalities. 2, 4, 7 Specific ECG parameters that progress over time include left anterior fascicular block, QRS duration in lead I, epsilon waves, T-wave inversions in V4-V6, and low QRS voltages. 3 The epsilon wave specifically predicts the composite endpoint of sudden cardiac death, heart failure-related death, or heart transplant. 3
Repeat cardiac MRI should be performed to follow disease progression and reassess sudden death risk, particularly monitoring for development of left ventricular involvement which portends worse prognosis. 2, 4, 7
Common Pitfalls to Avoid
Do not dismiss right ventricular enlargement in athletes as purely physiological adaptation without comprehensive evaluation. 1 Physiological RV remodeling shows proportionate enlargement of inflow and outflow tracts without segmental wall motion abnormalities, whereas ARVC shows disproportionate outflow tract enlargement with regional dysfunction. 1
Do not rely on echocardiography alone for diagnosis, as it has significant limitations in visualizing the complex RV geometry and may miss early or left-dominant disease. 1, 2
Do not use digoxin or verapamil for wide-complex tachycardia when VT has not been excluded, as this can precipitate ventricular fibrillation. 1
Do not underestimate disease severity in young patients presenting with isolated ventricular arrhythmias, as ARVC is a major cause of sudden cardiac death in apparently healthy young individuals and athletes. 5, 6, 8