What is the recommended evaluation and management plan for a patient with a history of falls, Alzheimer's disease, and an ECG showing an epsilon wave suggestive of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)?

Evaluation and Management of Fall with Epsilon Wave on ECG in Alzheimer's Patient

This patient requires urgent cardiac evaluation with cardiac MRI and cardiology consultation to confirm suspected ARVC, as the epsilon wave is a major diagnostic criterion and independent predictor of poor prognosis including sudden cardiac death. 1, 2, 3

Immediate Diagnostic Workup

Cardiac Imaging - Priority #1

• Cardiac MRI is essential and superior to echocardiography for establishing ARVC diagnosis, assessing right ventricular size, function, regional wall motion abnormalities, and detecting fibrofatty replacement 1, 4
• Transthoracic echocardiography should be performed immediately as the minimum required investigation, looking specifically for RV dilation, RV dysfunction (RVEF), LV involvement (LVEF), and regional wall motion abnormalities 1, 2, 4
• CMR or CT must be obtained when echocardiography does not provide accurate assessment of RV and LV function 1, 4

ECG and Rhythm Monitoring

• Obtain 12-lead ECG with high precordial leads to document epsilon waves, T-wave inversions (V1-V3 and beyond), QRS duration >110ms in right precordial leads, and delayed S-wave upstroke >55ms 1, 2, 5
• Minimum 24-48 hour Holter monitoring is mandatory to detect and quantify ventricular arrhythmias, which are often present without symptoms 1, 2, 4
• Signal-averaged ECG should be obtained for diagnosis and risk stratification, as late potentials are present in >50% of ARVC patients 1, 2, 4
• Exercise stress testing may reveal additional epsilon waves or arrhythmias not present at rest 2

Risk Stratification for Sudden Cardiac Death

High-risk features requiring prompt hospitalization and intensive evaluation include: 4

• Epsilon waves and ventricular late potentials suggestive of ARVC 4
• Syncope during exertion or supine position 4
• Clinical or ECG features suggesting arrhythmic syncope 4
• Severe structural heart disease 4

Critical prognostic finding: Epsilon wave is an independent predictor of the composite endpoint of sudden cardiac death, heart failure-related death, or heart transplant (OR 20.9,95% CI 1.8-239.8) 3

Fall Evaluation in Context of ARVC

Syncope Assessment

• This fall must be presumed arrhythmic in origin until proven otherwise, given the epsilon wave finding and high-risk ECG pattern 4
• Orthostatic hypotension should be assessed with supine and 3-minute active standing blood pressure measurements (diagnostic if systolic BP drops ≥20 mmHg or diastolic ≥10 mmHg) 4
• Carotid sinus massage is indicated for patients >40 years with syncope of unknown etiology, but should be avoided if history of TIA/stroke within 3 months or carotid bruits without Doppler exclusion of stenosis 4

Alzheimer's Confounding Factors

• The inability to obtain reliable history increases reliance on objective cardiac monitoring and imaging 4
• Implantable cardiac monitor should be strongly considered given recurrent fall risk and inability to report symptoms reliably 4

Management Algorithm

Immediate Interventions

• Beta-blockers are recommended for all ARVC patients with ventricular arrhythmias and can be useful even without documented VA 1
• Strict avoidance of intensive exercise is recommended for all patients with clinical diagnosis of ARVC 1

ICD Decision-Making

ICD implantation is recommended if ANY of the following are present: 1, 4

• Resuscitated sudden cardiac arrest 1
• Significant ventricular dysfunction with RVEF or LVEF ≤35% 1
• Documented sustained ventricular arrhythmia 4

ICD implantation is reasonable for: 4

• Syncope of suspected arrhythmic etiology in ARVC patients (Class IIa recommendation) 4

Electrophysiological Study Consideration

• May be considered for risk stratification in asymptomatic patients with clinical evidence of ARVC 1
• Can help differentiate ARVC from benign RVOT tachycardia or cardiac sarcoidosis 1, 6

Additional Diagnostic Considerations

Differential Diagnosis for Epsilon Waves

While epsilon waves are highly specific for ARVC, they can also occur in: 7, 6

• Cardiac sarcoidosis (can mimic ARVC and requires endomyocardial biopsy for definitive diagnosis) 6
• Posterior myocardial infarction 7
• Right ventricular infarction 7
• Brugada syndrome 7

Critical pitfall: Cardiac sarcoidosis can produce identical ECG findings and meet Task Force Criteria for ARVC; endomyocardial biopsy may be necessary if clinical suspicion exists 6

Genetic Evaluation

• 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 if a disease-causing mutation is identified 1

Monitoring Strategy

Disease Progression Surveillance

• ARVC is a progressive disease requiring periodic reassessment 1
• Repeat imaging to follow disease progression and reassess risk 1
• Continuous monitoring for arrhythmia development 1
• ECG parameters that progress over time include: left anterior fascicular block, QRS duration in lead I, epsilon wave amplitude, T-wave inversion extension to V4-V6, and low QRS voltages 3

Fall Prevention

• Given the high risk of recurrent arrhythmic events (63% sustained VT, 46% syncope in long-term follow-up), aggressive cardiac monitoring and treatment are essential 3
• Implantable cardiac monitor provides continuous rhythm surveillance in patients with cognitive impairment who cannot reliably report symptoms 4