Abstract Body (Do not enter title and authors here): Introduction
The prevalence of hypertrophic cardiomyopathy (HCM) in the UK Biobank based on ICD-10 codes (.07%) is lower than global estimates of disease prevalence (0.2 - 0.5%). Prior studies using this data have remarked on the limitations of findings given likely underdiagnosis. The availability of cardiac MRI scans on a fraction of the participants offers an opportunity to identify missed diagnoses.
Aims
This study seeks to utilize a generalizable deep learning model to detect likely cases of undiagnosed hypertrophic cardiomyopathy from cardiac MRIs in the UK Biobank.
Methods
The foundational model was trained on a multi-institutional dataset of 14,073 cardiac MRIs via a self-supervised contrastive learning approach that sought to minimize the divergence between scans and their associated radiology reports. The pre-trained model was fine-tuned to diagnose hypertrophic cardiomyopathy on a distinct cohort of 4,870 MRIs with 368 cases of HCM, achieving an AUC of 0.94. The fine-tuned model was applied to the UK Biobank cardiac MRI dataset to ascertain predicted probabilities of HCM. Cases exceeding a threshold of 95% – correlating to the top 0.5% of cases (expected specificity of 97% and sensitivity of 60%) – were screened in for manual reading. In a blinded fashion, a board-certified radiologist was tasked with diagnosing HCM on a sample of cases composed of high and low predicted probabilities.
Results
Of the 43,017 patients with cardiac MRIs, only 9 (.02%) had an ICD diagnosis of HCM. 266 cardiac MRIs were manually reviewed: 216 had greater than 95% predicted probability of HCM; 50 negative controls were randomly selected amongst cases with predicted probability less than 10%. The radiologist concurred with an HCM diagnosis for 115 cases (sensitivity 53%, specificity 98%), 112 of which were previously undiagnosed. The prevalence of hypertension and aortic stenosis did not significantly differ between the cohort of true positives (69.2%) and false positives (76.6%). The corrected prevalence of HCM in the UK BioBank MRI cohort is estimated at 0.28%.
Conclusions
The findings of this study illustrate the remarkable ability of a generalizable deep learning model to detect undiagnosed cases of a rare disease process from cardiac MRIs. This is an important milestone that may allow for widespread screening of hypertrophic cardiomyopathy while minimizing demand for radiologist labor, and thereby allow patients to reap the substantial benefits of earlier treatment.