Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic cardiomyopathy (ACM), is an inherited heart muscle disease in which the muscle of the right ventricle (and sometimes the left ventricle) is progressively replaced by fatty and fibrous tissue. This disrupts the heart’s electrical conduction, creating a substrate for life-threatening ventricular arrhythmias, including ventricular tachycardia and ventricular fibrillation.
Inheritance
ARVC is most commonly inherited in an autosomal dominant pattern, meaning a child of an affected parent has a 50% chance of inheriting the faulty gene. The most commonly affected genes encode proteins of the desmosome, a structure that holds heart muscle cells together. Mutations in genes such as PKP2, DSP, DSG2, DSC2, and JUP have been identified. Not everyone with a genetic mutation develops the disease to the same degree (variable penetrance).
Symptoms
Symptoms vary widely and may include palpitations, ventricular ectopics, sustained VT, unexplained syncope (blackout), or sudden cardiac arrest, often during or after vigorous exercise. Some people are diagnosed only after a family member is identified with the condition. Early in the disease, the heart may look structurally normal on a standard echocardiogram.
Diagnosis
Diagnosis is based on a combination of criteria (the 2010 Task Force Criteria), including ECG changes (epsilon wave, T-wave inversions in right precordial leads), Holter monitoring, echocardiogram, cardiac MRI, electrophysiology study, and genetic testing.
Management
Treatment aims to reduce arrhythmia risk and prevent sudden cardiac arrest. Key elements include: restriction from competitive sport and high-intensity exercise (which accelerates disease progression), an ICD for those at high risk of sudden cardiac death, antiarrhythmic medication, and catheter ablation. Family screening is essential.
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