Advanced Echocardiography in Paediatric and Congenital Cardiology: Impact on Diagnosis and Prognosis

The use of advanced echocardiography has significantly evolved in recent years, providing increasingly detailed morphological and functional assessments. This study aimed to assess the feasibility, reproducibility, and clinical utility of novel echocardiographic techniques - such as strain imaging, myocardial work, cardiac elastography, stress echocardiography, and three-dimensional echocardiography - in diagnosing and managing congenital and acquired heart diseases across paediatric and adult populations. Beside revising literature, we applied these technologies on patients with both acquired and congenital heart disease. In particular, we applied Shear Wave Elastography on Fontan patients to explore their hearts’ stiffness, in comparison to healthy volunteers. Moreover, Myocardial Work was used to describe acute rejection in heart transplanted patients and to highlight subclinical damage in adolescents with Diabetes Mellitus from more than 10 years. Speckle tracking echocardiography was then used to describe cardiac mechanics in ex-premature infants with bronchopulmonary dysplasia, in patients with a systemic right ventricle in biventricular physiology and in foetuses without cardiac pathology. A cohort of paediatric healthy volunteers was tested with stress echocardiography to investigate the normal response of trans-valvular gradients to physical stress, these results were then compared with pathological examination to calculate cut-offs suggestive of pathological response. Patients with aortic coartation were studied with stress echo to define if trans-isthmic gradient under stress could be predictive of recoartation. Lastly, Fontan patients were tested with stress echo to analyze their hemodynamic response to stress and correlate it with outcomes. Our findings highlight the added value of these advanced modalities in refining diagnostic accuracy, guiding therapeutic decisions, and improving prognostic stratification. Strain imaging and non-invasive myocardial work analysis, have demonstrated their utility in identifying subclinical myocardial dysfunction, which is often undetectable by conventional echocardiographic methods. Cardiac elastography has proven to be able to better characterize diastolic function through the evaluation of myocardial stiffness even in the setting of complex anatomies. Stress echo has become a fundamental part of the follow-up of many conditions, highlighting subclinical conditions and showing prognostic value. Similarly, three-dimensional echocardiography has proven particularly useful in the anatomical evaluation of complex cardiac malformations, allowing for precise visualization of intracardiac structures and surgical planning. We believe that the integration of different advanced echocardiographic techniques enhances the ability to characterize myocardial mechanics, ventricular function, and hemodynamic interactions in congenital heart disease patients, without the price of ionising radiation or pollutants. This comprehensive assessment is essential for optimizing clinical management and long-term outcomes. Further studies with larger patient cohorts are needed to validate our findings and standardize the clinical application of these techniques, but advanced echocardiography represents a fundamental tool in paediatric and congenital cardiology. Its continuous evolution will likely lead to even greater improvements in early diagnosis, individualized treatment planning, and prognostic assessment. Future research should focus on refining these technologies and integrating them with other imaging modalities to further enhance their clinical utility.