Stanford Cardiac Arrhythmia Service

Arrhythmic Right Ventricular Dysplasia / Cardiomyopathy

Arrhythmogenic right ventricular dysplasia (ARVD) or cardiomyopathy (ARVC) is caused by several genetic defects affecting desmosomes, which are proteins on the surface of heart muscle cells that link those cells together. These genetic defects lead to abnormalities in the lower heart chambers, the ventricles. What is normally muscle is replaced over time by scar tissue, known as “fibrofatty” replacement. [show picture of MRI showing fibrofatty infiltrate]  Most often, the right ventricle is affected, but the left ventricle can be affected as well, particularly in more advanced disease. As a result, electrical activity in the ventricles can become unstable, leading to reentrant ventricular tachycardia (VT) [refer to Hsia VT section]. Particularly in advanced disease, the pumping function of the right and/or left ventricles can weaken as a result of the scarring. 
Males are more often affected than females, and most patients first develop symptoms in early adulthood. Patients with ARVC most often come to medical attention due to symptoms associated with ventricular tachycardia. Symptoms can include palpitations, lightheadedness, fainting, or even cardiac arrest. Episodes can occur at any time, but are often associated with physical exertion. Diagnosis is made through several testing criteria:

Treatment options depend on the patient’s risk of a severe outcome, in particular, sudden cardiac death. This risk is determined by several factors, including the patient’s personal history of fainting or even cardiac arrest, the pateint’s family history of fainting or cardiac arrest, and to a lesser extent, other factors. Medical therapy includes beta blockers or antiarrhythmics, including sotalol, amiodarone, or others. Patients at high risk of sudden death may benefit from the protection of an implanted defibrillator [refer to ICD section]. Despite medications and defibrillators, patients may still have episodes of VT, leading to severe symptoms and/or shocks from the defibrillator. These and other patients may benefit from catheter ablation to treat these arrhythmias [refer to section on catheter ablation]. Catheter ablation can be very effective in reducing or eliminating episodes of VT.

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