Abstract 16607: Pediatric-Onset Disease Does Not Herald Adverse Clinical Course in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Background: In most genetic cardiomyopathies, early disease onset heralds adverse clinical outcome. However, the clinical attributes and disease course in pediatric cases with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) are largely unknown.
Objective: To delineate and compare the clinical characteristics, genetics, and outcome of pediatric-onset ARVD/C.
Methods: We obtained detailed phenotypic, genetic, and outcome data of 316 subjects who presented alive and fulfilled diagnostic Task Force Criteria (TFC) for ARVD/C at last follow-up. Patients were grouped into pediatric (diagnosis at <18 years) and adult (diagnosis at ≥ 18 years) ARVD/C. Clinical outcomes regarding sustained ventricular arrhythmia, cardiac transplantation, and death were ascertained.
Results: Among 316 definite ARVD/C cases, 43 (14%) were diagnosed prior to the age of 18 years. Pediatric cases were 22 (51%) males, with a mean age of 15.4 ± 1.8 years at time of diagnosis. Compared to adult cases, pediatric cases were disproportionately mutation carriers (77% vs 59%, p=0.029), but not more likely to carry multiple mutations (3% vs 4%, p=0.729), or to be probands (72% vs 72%, p=0.968). There were no other differences in demographic characteristics or in any domain of the TFC. During 6.2 (IQR 2.4-11.3) years follow-up, 26 (61%) pediatric cases experienced a sustained ventricular arrhythmia, 1 (2%) had cardiac transplantation, and 2 (5%) died (1 heart failure and 1 sudden cardiac death). There were no differences in survival free from sustained ventricular arrhythmia (p=0.460), cardiac transplantation (p=0.887) or death (p=0.196) between pediatric and adult cases.
Conclusion: Pediatric ARVD/C patients are disproportionately mutation carriers. All other clinical characteristics are similar between pediatric and adult cases. Over more than 6 years follow-up, arrhythmic, heart failure, and mortality outcomes are the same in pediatric and adult ARVD/C patients.
Author Disclosures: A.S. te Riele: None. C.A. James: None. A.C. Sawant: None. B. Murray: None. C. Tichnell: None. R. Tedford: Consultant/Advisory Board; Modest; merck. J. Crosson: None. D.P. Judge: None. H. Calkins: Other Research Support; Significant; St Jude Medical Inc, Medtronic Inc. H. Tandri: None.
- © 2014 by American Heart Association, Inc.