Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

Journal Article (Journal Article)

BACKGROUND: We investigated the role of phenotypic characteristics in stratifying the risk of sustained ventricular arrhythmias in patients harboring arrhythmogenic right ventricular dysplasia/cardiomyopathy-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 were obtained for 215 patients (104 families; 85% PKP-2). During a mean follow-up of 7 years, 86 (40%) patients experienced the arrhythmic outcome. Event-free survival was significantly lower among probands (P<0.001) and symptomatic (P<0.001) patients. Integration of ECG repolarization and depolarization abnormalities allowed for differential risk categorization. Event-free survival at 5 years for the low-risk ECG group (0-1 T inversions or minor depolarization changes) was 97% versus 81% for the intermediate-risk ECG group (2 T inversions+minor depolarization changes) versus 33% for the high-risk ECG group (≥3 T inversions±major or minor depolarization changes; P<0.001). Incremental arrhythmic risk was seen in patients with increasing premature ventricular complex count on a Holter (P<0.001). Proband status (hazard ratio, 7.7; 95% confidence interval, 2.8-22.5; P<0.001), ≥3 T-wave inversions (hazard ratio, 4.2; 95% confidence interval, 1.2-14.5; P=0.035), and male sex (hazard ratio, 1.8; 95% confidence interval, 1.2-2.8; P=0.004) were independent predictors of the first arrhythmic event on multivariable analysis. CONCLUSIONS: Pedigree evaluation, an ECG, and a Holter examination provide for comprehensive arrhythmic risk stratification in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutations. We propose an approach to risk stratification based on these variables.

Full Text

Duke Authors

Cited Authors

  • Bhonsale, A; James, CA; Tichnell, C; Murray, B; Madhavan, S; Philips, B; Russell, SD; Abraham, T; Tandri, H; Judge, DP; Calkins, H

Published Date

  • June 2013

Published In

Volume / Issue

  • 6 / 3

Start / End Page

  • 569 - 578

PubMed ID

  • 23671136

Electronic International Standard Serial Number (EISSN)

  • 1941-3084

Digital Object Identifier (DOI)

  • 10.1161/CIRCEP.113.000233


  • eng

Conference Location

  • United States