Once arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is diagnosed, the incidence of sudden cardiac death (SCD) is rare and prognosis is favorable, highlighting the value of early disease recognition. To inform strategies to diagnose ARVD/C before SCD, we sought to characterize clinical, genetic, and family history features of ARVD/C cases first recognized after SCD or resuscitated SCD (sudden cardiac arrest [SCA]). We identified 66 ARVD/C cases submitted to the Johns Hopkins ARVD/C Registry in whom disease was first recognized after SCD (n = 45) or SCA (n = 21) and compared their clinical, genetic, and demographic features with 352 patients (227 probands) diagnosed with ARVD/C by 2010 Task Force Criteria before any arrest. SCD/SCA cases were 65% men and experienced their arrest at 29.3 ± 13.8 years. Exertion precipitated 72% of arrests. Family history was recognized before arrest in 11 cases (17%), and 24 cases (41%) had reported cardiac symptoms before arrest. The SCD/SCA cohort was disproportionately men (65% SCD/SCA vs 50% living, p = 0.03) and younger at both first reported symptom (27.7 ± 13.5 years SCD/SCA vs 33.0 ± 13.6 years living, p = 0.01) and first sustained ventricular arrhythmia (VA) (29.3 ± 13.8 years SCD/SCA vs 35.6 ± 12.9 years living, p <0.001). In addition, survival from first symptom to VA was significantly shorter in SCD/SCA cases (p <0.001). These results suggest that the natural history of ARVD/C may be accelerated in SCD/SCA cases. In conclusion, although symptoms or family history provide a window of opportunity for diagnosis before death, time to intervene after symptom onset is limited.
Copyright © 2017 Elsevier Inc. All rights reserved.