Abstract 11398: Risk Stratification in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated Desmosomal Mutation Carriers
Background: We investigated the role of phenotypic characteristics in stratifying the risk of sustained ventricular arrhythmias in patients harboring Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) associated mutations.
Methods and Results: Clinical, electrocardiographic and arrhythmic outcome (composite measure of first occurrence of sustained ventricular tachycardia/resuscitated sudden cardiac death/sudden cardiac death/appropriate implantable cardioverter-defibrillator therapy) data was obtained for 215 patients (104 families; 85% PKP-2). Over a mean observation period of 40 years, 86 (40%) patients experienced the arrhythmic outcome. Median age at first episode of arrhythmic outcome was 30 years (IQR=24-41) with 95% of the events occurring before the age of 50 years. Event free survival was significantly lower among probands (p<0.001) and symptomatic (p<0.001) patients. Integration of electrocardiographic repolarization and depolarization abnormalities allowed for differential risk categorization. Event free survival at age 50 for the low risk electrocardiographic (ECG) group (0-2 T inversions or minor depolarization changes) was 96% vs. 72% for the intermediate risk ECG group (2 T inversions + minor depolarization changes) vs. 19% for the high risk ECG group (≥3 T inversions ± depolarization changes)(p <0.001). Incremental arrhythmic risk was seen in patients with increasing premature ventricular complex count on a Holter (p <0.001). Multivariable analysis showed that proband status (HR 7.2; 95%CI 2.5-20.5; P<0.001) and ≥ 3 precordial T wave inversions (HR 4; 95% CI 1.1-14.7; P=0.035) were independent predictors of the first arrhythmic event.
Conclusions: Pedigree evaluation, an electrocardiogram and a Holter examination provides for comprehensive arrhythmic risk stratification in patients with ARVD/C associated mutations. We propose an approach to risk stratification based on these variables (Figure).
- © 2012 by American Heart Association, Inc.