Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. The condition is progressive and over time the right ventricle loses the ability to pump blood. Individuals with ARVC often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. Other symptoms of ARVC include chest palpitations, dizziness, fainting and shortness of breath. Often, sudden cardiac death can be the first sign of ARVC. ARVC is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. There is also some evidence that ARVC could be caused by an infection of the heart muscle. Treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation.

The genetic basis of ARVC is complex and not fully understood. There are different ways in which ARVC can be inherited. The most common pattern of inheritance for ARVC is autosomal dominant. This means that a mutation in only one copy of the disease-causing gene is sufficient to cause the condition. An individual with an autosomal dominant condition has a 50% risk to pass the mutation on to each child. Other individuals with ARVC have an autosomal recessive form. This means mutations in both copies of the gene must be present to have a predisposition to ARVC. Parents of an individual with an autosomal recessive condition each carry one mutated copy of the gene and are referred to as carriers. When two carriers of an autosomal recessive condition have children, each child has a 25% risk to inherit mutations and be affected. Genetic testing can help determine which pattern of inheritance an affected individual has.