Deep Learning Model for Genotype Prediction from Echocardiographic Videos in Non-Ischemic Dilated Cardiomyopathy

Abstract Background Non-ischemic dilated cardiomyopathy (DCM) is associated with pathogenic germline variants, and genotype positivity predicts poor prognosis. Despite its importance, gene testing remains underutilized in the current era. Therefore, we aimed to develop a deep-learning model to predict genotype positivity using echocardiographic videos. Methods We included patients who were diagnosed with DCM and had genetic testing at the University of Tokyo Hospital, Japan, consecutively from 2014 to 2022. The apical four-chamber views of echocardiographic videos were collected. First, we developed a deep-learning model based on the EchoNet-Dynamic model, and the area under the curve (AUC) was computed. Second, we calculated the Madrid genotype score (clinical scoring system) for each case. Third, we developed a logistic regression model that combined the Madrid genotype score and the deep learning model. Finally, we compared the AUC of the combined model with that of the Madrid genotype score alone by DeLong’s test. Results Out of the 258 patients, 117 patients (45.3%) had genetic variants, and 141 (54.7%) did not. TTN (30.8%) was the most common genotype, followed by LMNA (18.8%). The deep learning model yielded an AUC of 0.64. The Madrid genotype score was well validated and achieved an AUC of 0.73. The combined model yielded an AUC of 0.76 with a significant improvement from the Madrid genotype score alone (P = 0.03). Conclusions The deep learning model demonstrated modest discriminative ability to predict genotype positivity using echocardiographic videos. The accuracy of the clinical scoring system improved when combined with the deep learning model.