Disease Directory Arrhythmogenic Right Ventricular Cardiomyopathy
Cardiovascular

Arrhythmogenic Right Ventricular Cardiomyopathy

Also known as: ARVC, ARVD, arrhythmogenic cardiomyopathy, desmoplakin/PKP2

Prevalence

1 per 2,000–5,000

Onset

Adolescence to young adulthood; rarely in childhood

Type

Autosomal dominant (most cases)

Gene

PKP2, DSP, DSG2, DSC2

About Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy is an inherited heart muscle disease caused primarily by mutations in desmosomal genes, leading to progressive fibro-fatty replacement of right ventricular myocardium, ventricular arrhythmias, and an elevated risk of sudden cardiac death, particularly in young individuals and athletes. PKP2, encoding plakophilin-2, is the most frequently mutated gene, accounting for approximately 70–80% of mutation-positive cases in North American and European cohorts. The diagnosis is made using the 2010 Revised Task Force Criteria, which integrate imaging, electrocardiographic, histological, and genetic findings.

Common Clinical Features

Palpitations and symptomatic ventricular ectopy Syncope or pre-syncope due to ventricular tachycardia Sudden cardiac arrest (may be the first presentation) Right ventricular dilation and wall motion abnormalities on MRI or echo Left bundle branch block morphology ventricular tachycardia Epsilon waves on ECG Fibro-fatty myocardial replacement on cardiac MRI (late gadolinium enhancement) Exercise-triggered arrhythmia

Clinical Trial Eligibility Tips

What to know before applying to Arrhythmogenic Right Ventricular Cardiomyopathy trials.

Fulfilling the 2010 Task Force Criteria (definite, borderline, or possible ARVC) is typically required for enrolment; ensure your diagnosis is formally documented with criterion scoring.

Competitive sport participation history and ongoing activity level are important for risk stratification and trial eligibility; a detailed exercise history should be prepared.

Implantable cardioverter-defibrillator (ICD) implantation status affects eligibility for some electrophysiology-focused trials; disclose device type and programming details.

Patient Resources

Patient Organization

ARVC Alliance

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Natural History Registry

North American ARVC Registry

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Orphanet

European reference resource for rare diseases (ORPHA:247)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Arrhythmogenic Right Ventricular Cardiomyopathy trials

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