The following are key points to remember from a review on arrhythmogenic right ventricular cardiomyopathy (ARVC):

1. ARVC is a hereditary disease associated with ventricular tachyarrhythmias, sudden cardiac death (SCD), and progressive ventricular dysfunction. Defective cardiac desmosomes lead eventually to cardiomyocyte death and replacement by fibrofatty tissue. Right ventricular (RV) disease is predominant, but biventricular or left ventricular involvement may occur.
2. ARVC prevalence is 1 in 2,500–5,000 persons. The second most frequent cause of SCD in persons under age 35 years, it causes up to 20% of cardiac-related deaths in this age group. Inheritance is largely autosomal dominant. Symptoms typically present between adolescence and mid-adulthood, but 20% of cases present after age 50 years. ARVC is more common in males than females.
3. ARVC is associated with mutations in desmosome-specific genes. Cardiac desmosomes (intercellular junctions) are necessary for myocyte stability and integrity. The inability of defective desmosomes to withstand mechanical stress may significantly contribute to disease etiology.
4. Common symptoms are palpitations, lightheadedness, or syncope related to ventricular dysrhythmias (i.e., premature ventricular contractions, nonsustained or sustained ventricular tachycardia [VT], or ventricular fibrillation). In more advanced stages, patients may present with exertional dyspnea or volume overload from heart failure. Some patients may be asymptomatic, such as family members detected by genetic screening.
5. Diagnosis is based on the 2010 Modified Task Force Criteria. A definite diagnosis of ARVC is established with a score of 4 points and a probable diagnosis with 3 points. Major and minor criteria are based on repolarization and depolarization abnormalities, ventricular dysrhythmias, genetic and family history, RV involvement, and tissue characteristics.
6. Useful diagnostic tests include electrocardiogram (ECG), ambulatory cardiac monitoring, echocardiography, cardiac magnetic resonance imaging, and genetic testing. Endomyocardial biopsy, though rarely performed, may be useful. Electrophysiology testing is not routinely recommended but may be useful prior to or in conjunction with ablation of VT.
7. Up to 90% of patients may have repolarization or depolarization abnormalities on ECG. The most common finding is T-wave inversions in leads V₁–V₃ without right bundle branch block. The presence of epsilon waves (occurring after the QRS complex and before the T-wave) remains a major criterion for diagnosis.
8. Treatment is focused on: a) determining the risk of sustained ventricular arrhythmia; b) considering implantable cardioverter-defibrillator (ICD); c) minimizing dysrhythmias and ICD therapies with medication, exercise restriction, and catheter ablation; d) inhibiting disease progression; and e) considering family screening.
9. Exercise restriction is necessary to limit ventricular dysrhythmias and progression of disease. Patients should be advised to avoid high-intensity and endurance exercise.
10. Patients are typically young, active, and otherwise healthy. They face unique psychosocial and lifestyle adjustments, particularly exercise restriction and living with an ICD.

Clinical Topics: Arrhythmias and Clinical EP, Cardiovascular Care Team, Congenital Heart Disease and Pediatric Cardiology, Diabetes and Cardiometabolic Disease, Heart Failure and Cardiomyopathies, Noninvasive Imaging, Prevention, Implantable Devices, Genetic Arrhythmic Conditions, SCD/Ventricular Arrhythmias, Atrial Fibrillation/Supraventricular Arrhythmias, CHD and Pediatrics and Arrhythmias, CHD and Pediatrics and Imaging, CHD and Pediatrics and Prevention, Acute Heart Failure, Echocardiography/Ultrasound, Magnetic Resonance Imaging, Exercise

Keywords: Arrhythmias, Cardiac, Arrhythmogenic Right Ventricular Dysplasia, Biopsy, Cardiac Electrophysiology, Cardiomyopathies, Catheter Ablation, Death, Sudden, Cardiac, Defibrillators, Implantable, Desmosomes, Diagnostic Imaging, Echocardiography, Electrocardiography, Exercise, Genetics, Heart Failure, Life Style, Magnetic Resonance Imaging, Myocytes, Cardiac, Syncope, Tachycardia, Ventricular, Ventricular Dysfunction, Young Adult

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