Potential Role of Targeted Single View Echocardiography as a Screening Test for Select Diagnoses in the Pediatric Population: Bicuspid Aortic Valve and Left Ventricular Hypertrophy

Background: In the pediatric population, a comprehensive study is routinely performed on initial echocardiographic assessment for many screening indications. Limitations of complete echocardiogram (echo) include high cost, time of study, lack of access in low-resource settings, and in some cases, incidental findings that may be anxiety-provoking and/or lead to additional, potentially unnecessary workup. Our study aims to assess the potential role of targeted single view echocardiography as a screening tool for certain low-yield indications such as Bicuspid Aortic Valve (BAV) and Left Ventricular Hypertrophy (LVH). We also aim to assess the risk of missing significant cardiac diseases that can otherwise be found in a complete echo.

Methods: Children <18 years of age with initial echo performed between 2011 and 2020 for indications of “family history of bicuspid aortic valve (fh-BAV)” were included in group 1 and “left ventricular hypertrophy on EKG (LVH-EKG)” in group 2. Echo reports and cardiology clinic notes were reviewed to identify echo findings, background histories and follow-up. Echo findings were divided into categories A and B based on their potential to be diagnosed or missed if targeted single short axis view imaging was used. This was determined independently by two separate investigators.

Results: Group 1 included 153 patients, 76 (50%) females and mean age at echo 8.6 ± 2.8 years. Group 2 included 125 patients, 98 (78%) males and mean age at echo 11.0 ± 2.1 years. BAV were diagnosed in 5 patients (3%) of group 1 and LVH in 6 patients (5%) of group 2 through the complete echo. 100% of the these were identifiable in a single targeted view, labeled as Category A findings.
Category B findings were noted 34 (22%) of group 1 and 30 (24%) of group 2. Category B findings were all incidental and included trivial-mild valvar regurgitation, patent foramen ovale (PFO), borderline-mild ascending aorta dilation and one case of a high take-off of the right coronary artery. Follow-up was recommended in 5 (3%) of group 1 and 11 (9%) of group 2 patients with category B findings. None of the follow up cases had symptoms or required cardiac medications or interventions.

Conclusion: Complete echocardiogram is a high cost, time consuming, and resource-intensive test with high rates of incidental findings. Our study found that significant structural/functional heart disease unrelated to the indication is rarely identified in children referred for fh-BAV or LVH-EKG, suggesting that targeted, single view echocardiography is an effective screening tool without harm of missing important associated cardiac diagnosis. Future prospective studies should focus on exploring targeted imaging sensitivity amongst various screening indications. With established appropriate use criteria, targeted portable ultrasound technology could improve access to screening in remote and resource-limited areas.