Digital diagnoSis of Cardiac sOUNd in peDiatric Patients [DI-SOUND Study]

Neonatal screening procedures for potentially life-threatening congenital cardiovascular diseases (i.e., duct-dependent systemic or pulmonary circulation), currently implemented at the national level, rely primarily on cardiovascular physical examination performed by a neonatologist. More recently, this approach has been complemented by the assessment of hemoglobin oxygen saturation at both the upper and lower extremities (pre- and post-ductal saturation) in order to improve diagnostic sensitivity, although this practice has not yet been uniformly adopted nationwide. Converging evidence indicates that these screening strategies are affected by significant limitations in both sensitivity (failure to identify affected individuals) and specificity (false-positive findings in healthy subjects). These limitations are associated with substantial overall costs for the healthcare system. Failure to correctly identify affected neonates may result in increased morbidity and mortality, whereas overdiagnosis leads to unnecessary second-level diagnostic investigations and imposes a considerable psychological burden on families, who remain understandably anxious until diagnostic confirmation is achieved. The aim of the present research project (proof-of-concept study) is to develop a digital classifier capable to categorize heart sounds with commercially available digital stethoscopes into a binary classification system distinguishing physiological from pathological sounds. The derivation phase will be followed by a prospective validation phase, in which the classifier will be applied to assess its diagnostic performance. This phase will also evaluate the economic impact of the digital screening approach compared with standard practice. During the derivation phase, neonates with known cardiovascular status, as determined by prior echocardiographic assessment (including both healthy subjects and those with congenital heart disease), will be enrolled. Heart sounds will be recorde