Potential role of targeted echocardiography as a screening test for select diagnoses in the paediatric population: bicuspid aortic valve and left ventricular hypertrophy

OBJECTIVE: We explore the role of targeted echocardiography as a screening tool for bicuspid aortic valve and left ventricular hypertrophy, specifically assessing the risk of missing significant cardiac findings that would otherwise be identified by comprehensive echocardiograms. METHOD: Children < 18 years at initial echocardiogram for indications of "family history of bicuspid aortic valve" and "left ventricular hypertrophy on electrocardiogram" were queried. Cardiology clinic notes and complete echocardiogram reports were reviewed for additional background histories and incidental findings. Follow-up clinic visits, if any, and management for those with incidental findings were reviewed. RESULTS: Bicuspid aortic valve group included 138 patients, 71 (51%) males and mean age at comprehensive echo was 8.4 ± 4.8 years. Bicuspid aortic valve was found in 3.6%, incidental findings were found in 15 (11%), and follow-up was recommended in 4 (2.8%). Left ventricular hypertrophy group included 70 patients, 58 (83%) males and mean age at echo 10.9 ± 4.7 years. Left ventricular hypertrophy was found in 2.8%, incidental findings were found in 9 (13%), and follow-up was recommended in 2 (2.8%).None of the follow-up group developed symptoms or required cardiac medications, exercise restrictions, or catheter or surgical-based interventions, except for one case of mild aortic root dilation who was restricted from heavy weightlifting. CONCLUSION: The risk of missing clinically important findings with targeted echocardiography that would have been identified with comprehensive echocardiography is extremely low for screening indications of isolated left ventricular hypertrophy on electrocardiogram or family history of bicuspid aortic valve, suggesting that targeted echocardiography could be an effective screening tool.