Summary

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart muscle disease where the muscle of the right ventricle (and sometimes left ventricle) is gradually replaced by fat and fibrous tissue. Think of your heart muscle as strong, contractile tissue—in ARVC, this tissue is replaced by fat and scar tissue, making the heart wall weak and prone to dangerous arrhythmias (ventricular tachycardia, ventricular fibrillation). This condition is inherited (autosomal dominant) and is a leading cause of sudden cardiac death in young people, especially athletes. The disease usually presents in young adults (20-40 years) with symptoms like palpitations, syncope (fainting), or sudden cardiac arrest. The key to management is recognizing the condition (especially in young people with arrhythmias or family history), confirming the diagnosis (ECG, echocardiography, cardiac MRI, genetic testing), preventing sudden death (ICD implantation), treating arrhythmias (medications, ablation), and screening family members. This is a serious condition that requires lifelong management and monitoring.

Key Facts

• Definition: Genetic cardiomyopathy with replacement of heart muscle by fat and fibrous tissue
• Incidence: Rare (~1 in 5,000), but important cause of sudden cardiac death
• Mortality: High risk of sudden cardiac death if not treated
• Peak age: Young adults (20-40 years)
• Critical feature: Ventricular arrhythmias, risk of sudden cardiac death
• Key investigation: ECG, echocardiography, cardiac MRI, genetic testing
• First-line treatment: ICD implantation (prevent sudden death), antiarrhythmics, family screening

Clinical Pearls

"Think of it in young people with VT" — ARVC should be considered in young people (especially athletes) presenting with ventricular tachycardia or sudden cardiac arrest. It's a leading cause of sudden cardiac death in the young.

"Family history is key" — ARVC is inherited (autosomal dominant). Always ask about family history of sudden cardiac death, especially in young relatives.

"ECG shows characteristic changes" — The ECG often shows T wave inversions in V1-V3, epsilon waves, and ventricular arrhythmias with left bundle branch block pattern (originating from right ventricle).

"ICD is life-saving" — Implantable cardioverter-defibrillator (ICD) implantation is essential to prevent sudden cardiac death. This is the most important treatment.

Why This Matters Clinically

ARVC is a leading cause of sudden cardiac death in young people, especially athletes. Early recognition (especially in young people with arrhythmias or family history), proper diagnosis, and ICD implantation can prevent sudden death. This is a condition that cardiologists need to recognize and manage, as it requires lifelong monitoring and treatment.

Structured Approach: ABCDE

A - Airway

• Assessment: Usually patent
• Action: Secure if compromised

B - Breathing

• Look: Usually normal (may have difficulty if heart failure)
• Listen: Usually normal
• Measure: SpO2 (usually normal)
• Action: Support if needed

C - Circulation

• Look: May have signs of heart failure (elevated JVP, peripheral edema)
• Feel: Pulse (may be irregular), BP (usually normal)
• Listen: Heart sounds (usually normal, may have S3 if heart failure)
• Measure: BP (usually normal), HR (may be irregular)
• Action: Monitor if arrhythmia

D - Disability

• Assessment: Usually normal
• Action: Assess if syncope

E - Exposure

• Look: Cardiovascular examination
• Feel: JVP, peripheral pulses
• Action: Complete examination

Specific Examination Findings

Cardiovascular Examination:

• JVP: May be elevated (if right heart failure)
• Heart sounds: Usually normal (may have S3 if heart failure)
• Peripheral pulses: Usually normal (may be irregular if arrhythmia)
• Peripheral edema: May have (if right heart failure)

Special Tests

Natural History (Without Treatment)

Untreated ARVC:

• High risk of sudden death: 5-10% per year
• Progressive heart failure: Over years
• Poor outcomes: If not treated

Outcomes with Treatment

Factors Affecting Outcomes:

Good Prognosis:

• ICD implantation: Prevents sudden death
• Early diagnosis: Better outcomes
• No heart failure: Better outcomes
• Good compliance: With medications, follow-up

Poor Prognosis:

• No ICD (if high risk): High risk of sudden death
• Heart failure: Worse outcomes
• Recurrent arrhythmias: May affect quality of life
• Late diagnosis: May have more advanced disease

Prognostic Factors

Key Guidelines

1. ESC Guidelines (2015) — Ventricular arrhythmias and sudden cardiac death. European Society of Cardiology

Key Recommendations:

• ICD implantation if high risk
• Antiarrhythmics
• Family screening
• Evidence Level: 1A

Landmark Trials

Multiple studies on ICD efficacy, outcomes.

Evidence Strength

What is ARVC?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart muscle disease where the muscle of your right ventricle (and sometimes left ventricle) is gradually replaced by fat and fibrous tissue. Think of your heart muscle as strong, contractile tissue—in ARVC, this tissue is replaced by fat and scar tissue, making your heart wall weak and prone to dangerous arrhythmias (ventricular tachycardia, ventricular fibrillation).

In simple terms: Your heart muscle is gradually replaced by fat and scar tissue, making your heart prone to dangerous arrhythmias and sudden cardiac death. This is a serious condition that needs lifelong management, but with proper treatment (especially an ICD), most people do well.

Why does it matter?

ARVC is a leading cause of sudden cardiac death in young people, especially athletes. Early recognition, proper diagnosis, and ICD implantation can prevent sudden death. The good news? With proper treatment (especially an ICD), most people do well and can live normal lives.

Think of it like this: It's like your heart muscle gradually being replaced by weaker tissue, making it prone to dangerous arrhythmias—an ICD can save your life if this happens.

How is it treated?

1. ICD Implantation (Most Important):

• What: An implantable cardioverter-defibrillator (ICD) is a device implanted in your chest that monitors your heart rhythm
• Why: If you have a dangerous arrhythmia, it can shock your heart back to normal rhythm, saving your life
• When: If you're at high risk of sudden cardiac death (previous cardiac arrest, VT, syncope, family history)
• This is the most important treatment: It prevents sudden cardiac death

2. Medications:

• Antiarrhythmics: Medicines to prevent arrhythmias (sotalol, amiodarone)
• Heart failure medicines: If you have heart failure (ACE inhibitors, beta-blockers)
• Why: To prevent arrhythmias and support your heart function

3. Catheter Ablation (If Needed):

• What: A procedure to destroy areas of your heart causing arrhythmias
• When: If you have recurrent VT despite medications
• Why: To reduce arrhythmias

4. Lifestyle Modifications:

• Restrict competitive sports: You may need to avoid high-intensity exercise
• Why: Exercise can trigger arrhythmias and may accelerate the disease
• Talk to your doctor: About what level of exercise is safe

5. Family Screening:

• Why: ARVC is inherited, so family members need to be screened
• What: ECG, echocardiography, cardiac MRI, genetic testing
• When: All first-degree relatives should be screened

The goal: Prevent sudden cardiac death (ICD), prevent arrhythmias (medications), and monitor your heart function.

What to expect

Management:

• ICD: You'll have an ICD implanted if you're at high risk
• Medications: You'll take medications long-term
• Follow-up: Regular follow-up to monitor your heart function and ICD
• Lifestyle: You may need to modify your exercise

After Treatment:

• ICD checks: Regular checks of your ICD (usually every 3-6 months)
• Medications: Continue medications as prescribed
• Monitoring: Regular tests to monitor your heart function
• Family screening: Family members will be screened

Long-Term:

• Most people do well: With proper treatment, most people live normal lives
• ICD protects you: The ICD can save your life if you have a dangerous arrhythmia
• Progressive disease: The disease may progress over time, but with monitoring and treatment, most people do well

When to seek help

Call 999 (or your emergency number) immediately if:

• You have sudden cardiac arrest (someone needs to call and start CPR)
• You have severe palpitations or feel like you're going to faint
• Your ICD shocks you (this means it detected a dangerous arrhythmia)
• You feel very unwell

See your doctor if:

• You have palpitations or feel your heart racing
• You have fainting episodes
• You have a family history of sudden cardiac death or ARVC
• You have concerns about your heart

Remember: If you have ARVC or are at risk, it's important to follow your doctor's advice, take your medications, and have regular follow-up. The ICD is life-saving—if you're at high risk, it's essential. Also, make sure family members are screened, as ARVC is inherited.