# Arrhythmogenic Right Ventricular Cardiomyopathy

> Arrhythmogenic right ventricular cardiomyopathy for NEET-PG Medicine: fibrofatty RV change, epsilon waves, desmosomal genes and sudden death in athletes.

- Canonical URL: https://prepelephant.com/topics/neet-pg/medicine/arrhythmogenic-right-ventricular-cardiomyopathy
- Exam / course: NEET-PG · Subject: Medicine
- Publisher: PrepElephant (https://prepelephant.com) — Prepared and reviewed by the PrepElephant Academic Review Team
- First published: 2026-10-14
- Last updated: 2026-10-14
- Reference basis: Harrison's Principles of Internal Medicine; Braunwald's Heart Disease; ESC Guidelines on Ventricular Arrhythmias and Sudden Cardiac Death
- How to cite: "Arrhythmogenic Right Ventricular Cardiomyopathy", PrepElephant, https://prepelephant.com/topics/neet-pg/medicine/arrhythmogenic-right-ventricular-cardiomyopathy

## Direct answer

Arrhythmogenic right ventricular cardiomyopathy is an inherited disorder of desmosomal proteins in which right ventricular myocardium is progressively replaced by fibrofatty tissue, predisposing to ventricular arrhythmias and sudden death. It classically presents in young adults and athletes with palpitations, syncope or exercise-triggered arrhythmia, and the ECG may show epsilon waves and T wave inversion in V1 to V3. Most cases are autosomal dominant, and an implantable defibrillator is the main preventive therapy for high-risk patients.

## What you must remember

- **Pathology:** fibrofatty replacement of the RV free wall, which can extend to the left ventricle in later disease.
- **Genetics:** mostly autosomal dominant, with desmosomal genes including PKP2, DSP, DSG2, DSC2 and JUP.
- **ECG:** epsilon waves, which are small notched potentials at the end of the QRS in V1 to V3, and T wave inversion in V1 to V3 in adults.
- **Arrhythmia:** ventricular tachycardia with a left bundle branch block morphology suggests an RV origin.
- **Imaging:** RV dilatation and regional akinesia or dyskinesia on echo or MRI, with fatty infiltration seen on MRI.
- **Sudden death:** exercise-triggered VT or VF in young athletes is a classic presentation.
- **Diagnosis:** revised Task Force criteria combine imaging, ECG, arrhythmia, histology and family history with genetic results.
- **Management:** ICD for high-risk patients, beta-blockers, restriction from competitive sport and catheter ablation for ventricular tachycardia.

## A stepwise approach to a young athlete with RV abnormalities

A 19-year-old college football player collapses during training and survives after resuscitation. His ECG shows T wave inversion in V1 to V3 and an epsilon wave.

1. **Start with the ECG:** Look for epsilon waves, T wave inversion in V1 to V3 in adults, and ventricular ectopy with a left bundle branch block morphology.
2. **Image the right ventricle:** Echo or cardiac MRI measures RV size and function, and MRI shows fatty infiltration and regional akinesia.
3. **Assess arrhythmia:** Holter monitoring, exercise testing and electrophysiological study define the burden of ventricular tachycardia.
4. **Apply the criteria:** Revised Task Force criteria weigh imaging, ECG, arrhythmia, histology and family history to confirm disease.
5. **Test genes and family:** Genetic testing and screening of first-degree relatives identify carriers and affected family members.
6. **Stratify the risk:** Cardiac arrest, sustained VT or syncope mark high risk for ICD implantation, and competitive sport is restricted.

## Where the exam tries to catch you

ARVC questions test diagnostic criteria and risk stratification.

- **Trap:** Calling an athlete's RV dilatation ARVC without criteria. — **Correct:** Athletes can have physiological RV enlargement, so ARVC requires the formal criteria.
- **Trap:** Treating epsilon waves as a normal variant. — **Correct:** Epsilon waves are considered specific for ARVC, although their absence does not exclude disease.
- **Trap:** Restricting only symptomatic patients from sport. — **Correct:** Competitive, intense exercise is usually advised against once the diagnosis is made.
- **Trap:** Relying on beta-blockers alone for high-risk patients. — **Correct:** An ICD is the mainstay of protection for high-risk patients.

## Frequently asked questions

### Which ECG finding is specific to arrhythmogenic right ventricular cardiomyopathy?

Epsilon waves are regarded as specific for arrhythmogenic right ventricular cardiomyopathy, appearing as small notched potentials at the end of the QRS in V1 to V3. Their absence does not exclude the disease, so the ECG is read alongside imaging and arrhythmia findings.

### What is the inheritance pattern of arrhythmogenic right ventricular cardiomyopathy?

Arrhythmogenic right ventricular cardiomyopathy is most often inherited in an autosomal dominant pattern, caused by mutations in desmosomal genes. Family screening of first-degree relatives is therefore part of the workup after any new diagnosis.

### Which gene is most commonly involved in arrhythmogenic right ventricular cardiomyopathy?

PKP2, which encodes plakophilin-2, is the most commonly involved gene in arrhythmogenic right ventricular cardiomyopathy. Other desmosomal genes, including DSP, DSG2, DSC2 and JUP, are implicated in a smaller share of cases.

### Why is intense exercise restricted in arrhythmogenic right ventricular cardiomyopathy?

Intense exercise can trigger ventricular tachycardia or fibrillation in arrhythmogenic right ventricular cardiomyopathy, which is why athletes are usually advised to avoid competitive sport. The restriction protects patients from sudden cardiac death during exertion.