Improved diagnosis of arrhythmogenic right ventricular cardiomyopathy using electrocardiographic deep learning

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic heart disease associated with life-threatening ventricular arrhythmias. Diagnosis of ARVC is based on the 2010 Task Force Criteria (TFC), application of which often requires clinical expertise at specialized centers.

The purpose of this study was to develop and validate an electrocardiogram (ECG) deep learning (DL) tool for ARVC diagnosis.

ECGs of patients referred for ARVC evaluation were used to develop (n = 551 [80.1%]) and test (n = 137 [19.9%]) an ECG-DL model for prediction of TFC-defined ARVC diagnosis. The ARVC ECG-DL model was externally validated in a cohort of patients with pathogenic or likely pathogenic (P/LP) ARVC gene variants identified through the Geisinger MyCode Community Health Initiative (N = 167).

Of 688 patients evaluated at Johns Hopkins Hospital (JHH) (57.3% male, mean age 40.2 years), 329 (47.8%) were diagnosed with ARVC. Although ARVC diagnosis made by referring cardiologist ECG interpretation was unreliable (c-statistic 0.53; confidence interval [CI] 0.52-0.53), ECG-DL discrimination in the hold-out testing cohort was excellent (0.87; 0.86-0.89) and compared favorably to that of ECG interpretation by an ARVC expert (0.85; 0.84-0.86). In the Geisinger cohort, prevalence of ARVC was lower (n = 17 [10.2%]), but ECG-DL-based identification of ARVC phenotype remained reliable (0.80; 0.77-0.83). Discrimination was further increased when ECG-DL predictions were combined with non-ECG-derived TFC in the JHH testing (c-statistic 0.940; 95% CI 0.933-0.948) and Geisinger validation (0.897; 95% CI 0.883-0.912) cohorts.

ECG-DL augments diagnosis of ARVC to the level of an ARVC expert and can differentiate true ARVC diagnosis from phenotype-mimics and at-risk family members/genotype-positive individuals.