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Circ Arrhythm Electrophysiol. 2013 Jun;6(3):569-78. doi: 10.1161/CIRCEP.113.000233. Epub 2013 May 13.

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

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Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD.



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.


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.


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.


cardiomyopathies; electrocardiography; risk factors; survival; tachycardia

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