Abstract 11215: Exercise Influences Penetrance and Outcomes in Family Members of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients Carrying a Pathogenic Desmosomal Mutation

Abstract

Background: Endurance exercise is associated with adverse arrhythmic outcomes and development of heart failure in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated desmosomal mutation carriers. However studies comparing exercise participation in family members with desmosomal mutations are lacking. Methods: Structured exercise interviews were performed focusing on duration, intensity and timing among ten families with 37 patients (9 probands, 28 family members) carrying a pathogenic plakophilin ( PKP2 ) mutation. Exercise was classified based on 36 th Bethesda Conference into endurance/dynamic sports and static sports. Baseline characteristics, non-invasive and invasive clinical data, family history data and occurrence of ventricular tachycardia/appropriate defibrillator intervention (VT/VF) were collected. Results: Exercise duration (hours/year) at last follow up was highest among probands. Family members meeting 2010 Task Force Criteria [TFC] had significantly higher exercise duration (Figure 1-A), were more likely to be endurance athletes (77% vs. 33%, p=0.03), and had significantly higher participation in sports with high dynamic component (Median 416[IQR:123-864] vs. 214[IQR:48-408] hours/year; p=0.046) than family members not meeting TFC. Family members who were endurance athletes had worse arrhythmic course (Figure 1-B), were more likely to meet a major or minor 2010 TFC for depolarization/repolarization abnormalities (p=0.05), 2010 TFC for structural abnormalities (p=0.024) and had significantly lower right ventricular ejection fraction (48% vs. 57%; p=0.007). Conclusion: Mutation carrier family members of probands who are endurance athletes have increased penetrance, worse arrhythmic outcomes and greater structural changes compared with family members who are not endurance athletes and should be advised to restrict participation in exercise, especially with a high dynamic component.