Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case-Control Study and Prediction Model.

Bicuspid aortic valve disease (BAV) is the most common congenital heart condition, and early detection can improve outcomes for patients. In this case−control study, patients with a diagnosis of BAV were identified from their electronic primary-care records in the UK’s Clinical Practice Research Datalink (CPRD). Each case was propensity-score matched to up to five controls. The clinical features recorded before diagnosis were compared. The proposed clinical features shown to be associated with BAV (p < 0.05) were incorporated into a multivariable regression model. We identified 2898 cases. The prevalence of BAV in the CPRD was 1 in 5181, significantly lower than expected, suggesting that diagnosis and/or recording could be improved. The following biologically plausible clinical features were associated with a subsequent diagnosis of BAV: palpitations (OR: 2.86 (95% CI: 1.60, 3.16)), atrial fibrillation (AF) (OR: 2.25 (95% CI: 1.60, 3.16)) and hypertension (OR: 1.72 (1.48, 2.00)). The best model had an AUC of 0.669 (95% CI: 0.658 to 0.680), a positive predictive value (PPV) of 5.9% (95% CI: 4.0% to 8.7%) and a negative predictive value (NPV) of 99% (95% CI: 99% to 99%) at a population prevalence of 1%. This study indicates that palpitations, hypertension and AF should trigger a clinical suspicion of BAV and assessment via echocardiography. It also demonstrates the potential to develop a prediction model for BAV to stratify patients for echocardiography screening.