What is the management for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) diagnosed on echocardiogram (echo)?

Management of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Diagnosed on Echo

If ARVC is diagnosed on echocardiogram, immediately confirm the diagnosis with cardiac MRI, initiate beta-blocker therapy, restrict intensive exercise, perform comprehensive risk stratification, and consider ICD implantation based on specific high-risk features. 1

Immediate Diagnostic Confirmation

• Cardiac MRI is essential for establishing the diagnosis and risk stratification when ARVC is suspected on echo, as it provides superior assessment of right ventricular size, function, regional wall motion abnormalities, and can detect fibrofatty replacement 1
• CMR or CT should be obtained when echocardiography does not provide accurate assessment of LV and RV function and structural changes 1
• The 2010 Task Force Criteria combine imaging findings with ECG abnormalities, arrhythmias, family history, genetic testing, and tissue characterization to establish diagnosis 1

Common pitfall: Echocardiography alone has limitations in assessing the right ventricle compared to CMR, which offers better visualization of RV structure and can detect early disease 2

Universal Management for All ARVC Patients

Lifestyle Modifications

• Avoiding intensive exercise is mandatory in all patients with clinical diagnosis of ARVC 1
• Patients should be excluded from competitive sports and vigorous training 3

Pharmacologic Therapy

• Beta-blockers are recommended for all ARVC patients with ventricular arrhythmias 1
• Beta-blockers can be useful even in patients with clinical evidence of ARVC but without documented VA 1
• Sotalol (preferred) or amiodarone combined with beta-blockers showed highest efficacy for suppressing VT recurrences 3

Risk Stratification and ICD Decision-Making

Class I Indications for ICD (Highest Priority)

An ICD is recommended if the patient has ANY of the following high-risk markers AND meaningful survival >1 year is expected: 1

• Resuscitated sudden cardiac arrest
• Sustained ventricular tachycardia
• Significant ventricular dysfunction with RVEF or LVEF ≤35%

Class IIa Indication for ICD

• ICD can be useful for patients with syncope presumed due to VA if meaningful survival >1 year is expected 1

Additional Risk Factors to Consider

• Younger age, male sex, previous non-sustained VT, extent of T-wave inversion, frequent premature ectopic beats, and lower biventricular ejection fraction increase risk 4
• RV dilation, precordial repolarization abnormalities, and LV involvement are associated with sudden death risk 1

Important caveat: The 2006 guidelines suggested ICD for extensive disease including LV involvement, multiple affected family members with SCD, or unexplained syncope 1, but the more recent 2017/2018 guidelines provide more specific criteria focused on documented arrhythmias and ventricular dysfunction 1

Additional Diagnostic Workup

Electrocardiographic Evaluation

• 12-lead ECG in sinus rhythm is mandatory to look for T-wave inversions (V1-V3), QRS duration >110ms, and epsilon waves 1
• Signal-averaged ECG can be useful for diagnosis and risk stratification 1
• 24-48 hour Holter monitoring to detect and quantify ventricular arrhythmias 1

Electrophysiological Study

• May be considered for risk stratification in asymptomatic patients with clinical evidence of ARVC 1
• Can help differentiate ARVC from benign RVOT tachycardia or sarcoidosis 1

Genetic Testing and Family Screening

• Genetic counseling and testing are useful for diagnosis and gene-specific targeted family screening 1
• Clinical screening of first-degree relatives is recommended along with genetic counseling and testing if the proband has a disease-causing mutation 1
• Pathogenic mutations in desmosomal genes can be found in approximately 60% of index patients 2

Adjunctive Therapies

Catheter Ablation

• Can be beneficial for recurrent symptomatic sustained VT when beta-blockers are ineffective or not tolerated, with availability of combined endocardial/epicardial approach 1
• Plays an important palliative role in patients with frequent VT recurrences and ICD discharges 3
• Good acute results but VT recurrences from new foci are common during progressive disease course 3

Antiarrhythmic Drugs

• Amiodarone or sotalol can be effective when ICD implantation is not feasible 1
• Should be used as adjunct to ICD (not stand-alone) in high-risk patients to prevent frequent ICD discharges 3

Monitoring Strategy

• Periodic reassessment is necessary as ARVC is a progressive disease 1
• Repeat imaging to follow disease progression and reassess risk 1
• Continuous monitoring for arrhythmia development in patients without initial VA 1

Critical distinction: The evidence strongly supports that ICD therapy has proven efficacy for secondary prevention in high-risk patients 3, while the role for primary prevention requires careful individual risk assessment using the specific criteria outlined above 1