Update on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by life-threatening ventricular arrhythmias and slowly progressive ventricular dysfunction. Treatment for families with ARVD/C is directed toward prevention of sudden cardiac death, prevention or delay of disease progression, and adjustment to life with a lifelong chronic genetic disease. As there have been no randomized trials of ARVD/C treatments or screening regimens, treatment decisions are based on clinical expertise, results of retrospective registry-based studies, and understanding of pathologic mechanisms of disease. The first step for treatment is securing an accurate diagnosis through careful application of the diagnostic Task Force criteria. Following diagnosis in an index case, family members are screened. We advise affected individuals and gene carriers to dramatically reduce exercise and strongly recommend that ARVD/C patients discontinue competitive athletics. We generally recommend implantable cardioverter defibrillator (ICD) placement in all probands who meet Task Force criteria, especially if they have a history of sustained ventricular tachycardia (VT), arrhythmogenic syncope, or frequent ventricular ectopy and/or nonsustained VT. We are more circumspect about recommending implantation of an ICD in a family member who has been diagnosed with ARVD/C through family screening, as these individuals are now being identified at a much earlier stage in their disease than was possible previously. Anti-arrhythmic medications and catheter ablation are used to decrease the frequency of ventricular tachycardia and associated implantable cardioverter defibrillator therapies. Epicardial ablation is offered if endocardial ablation fails or as part of an initial combined endocaridal/epicardial ablation strategy, depending on patient preference. We attempt to initiate beta-blocker therapy and therapy with angiotensin-converting enzyme inhibitors to limit structural progression and prevent ventricular arrhythmias. Unaffected family members are screened for disease onset regularly from adolescence through noninvasive cardiac testing. Support to families is provided through ongoing genetic counseling, patient-family web-based support, and in-person seminars for families.