Nadia Assanta

Although echocardiography remains the primary imaging modality for assessing Fontan palliation, a standardized systematic approach for evaluating the univentricular heart throughout the different stages of palliation has yet to be established. This document aims to provide a narrative review and practical guide for the echocardiographic assessment of the univentricular heart at various phases of Fontan palliation. Additional objectives include highlighting the potential of advanced three-dimensional (3D) and four-dimensional (4D) imaging modalities, as well as outlining a systematic strategy for detecting thromboembolic complications. We propose a sequential framework for echocardiographic evaluation, encompassing key anatomical and functional components of the univentricular heart. This includes the atrial septum and pulmonary veins, ventricular function, atrioventricular valve, aorta and neo-aorta, sub-aortic region, aortic arch, and pulmonary arteries. Furthermore, we detail the assessment of pulmonary blood supply at different stages of palliation, including the modified Blalock–Taussig–Thomas (mBTT) shunt, Sano conduit, Glenn procedure, and total cavo-pulmonary connection (TCPC). A comprehensive analysis of potential thrombus formation sites is provided, along with diagnostic pitfalls. Additionally, we outline methods for screening for extracardiac clots following Glenn and TCPC procedures. This document serves as a practical guide for the systematic echocardiographic evaluation of the univentricular heart across all stages of Fontan palliation, offering guidance for clinical practice. It also explores the capabilities of emerging 3D and 4D echocardiographic techniques in univentricular heart assessment and provides an in-depth review of thromboembolic complications, emphasizing key diagnostic challenges.

Background: Atrial arrhythmias represent a frequent long-term complication in patients with atrial septal defects (ASDs). Interatrial block (IAB), reflecting delayed or impaired conduction across Bachmann’s bundle, has been proposed as an electrophysiological substrate predisposing to atrial arrhythmogenesis. However, evidence regarding its prevalence and clinical correlates in pediatric patients with ASD remains limited. The present study aimed to characterize interatrial conduction patterns and assess the occurrence of IAB in children with large secundum ASD undergoing percutaneous closure. Methods: Between January 2020 and March 2024, 37 consecutive pediatric patients (median age 6 years, range 5–11) with large ostium secundum ASD were included in a retrospective analysis of a prospectively maintained institutional database. Standard 12-lead electrocardiograms were recorded before and within 24 h after defect closure. P-wave morphology and duration were systematically analyzed, and IAB was classified according to the Bayés de Luna criteria. Results: The median Qp/Qs ratio was 1.69 (1.32–2.24), with a mean pulmonary artery pressure of 19 mmHg (17–22). IAB was identified in 24.3% of patients before the procedure, predominantly as first-degree IAB. Following device implantation, IAB prevalence (29.7%) and P-wave parameters remained unchanged, with no significant differences compared with baseline. No associations were observed between IAB and defect size, hemodynamic burden, or device characteristics, whereas anthropometric variables, including weight, height, and body surface area, showed a significant correlation with IAB occurrence. During a median follow-up of 199 days, no atrial arrhythmias were documented. Conclusions: In this pediatric cohort with large ASD, IAB was present in approximately one quarter of patients and appeared unrelated to anatomical or procedural factors, supporting the hypothesis of an underlying congenital conduction abnormality. Early recognition of IAB may therefore have implications for long-term arrhythmic risk stratification in this population.

Background: Assessing right ventricular (RV) diastolic function by echocardiography in pediatric patients remains complex, particularly in congenital heart disease (CHD) characterized by RV pressure overload. The geometric peculiarities of the RV, respiratory influences, and age-dependent maturational changes complicate interpretation of Doppler-derived indices. This study aimed to characterize tricuspid valve (TV) pulsed-wave Doppler E/A inflow patterns in infants with CHD and RV pressure overload, evaluated shortly after surgical or percutaneous intervention. Methods: Echocardiographic analysis included TV E- and A-wave velocities obtained by pulsed-wave Doppler and measurement of E-wave deceleration time (EDT). Beat-to-beat variability was quantified over three consecutive cardiac cycles. Data were compared with a large cohort of age-matched healthy children. Results: Fifty-seven infants with CHD (35 pulmonary stenosis; 22 tetralogy of Fallot), examined 12–48 h post-intervention, were compared with 134 healthy controls. CHD patients showed markedly reduced beat-to-beat variability of both E- and A-wave velocities (p < 0.001 and p = 0.007, respectively). A three-beat E/A inversion pattern—common in neonates but variable in healthy infants—was consistently observed in CHD patients (p < 0.001). A-wave velocities were significantly higher (p < 0.001), whereas E/A ratios (p < 0.001) and EDT values (p = 0.010) were significantly lower compared with controls. Conclusions: Infants with CHD and RV pressure overload exhibit a characteristic Doppler pattern consisting of E/A ratio inversion, reduced beat-to-beat variability, increased A-wave velocity, and shortened E/A ratio and EDT. These findings may serve as practical and reproducible indicators of RV diastolic dysfunction in the early post-intervention period in neonates and infants.

Echocardiography is the primary imaging modality for diagnosing cardiac disease in children, with quantitation largely based on nomograms. Over the past decade, significant efforts have been made to address the numerical and methodological limitations of earlier nomograms. As a result, robust and reliable pediatric echocardiographic nomograms are now available for most two-dimensional anatomical measurements, three-dimensional volumes, and strain parameters. These more recent nomograms are based on adequate sample sizes, strict inclusion and exclusion criteria, and rigorous statistical methodologies. They have demonstrated good reproducibility with minimal differences across different authors, establishing them as reliable diagnostic tools. Despite these advances, some limitations persist. Certain ethnic groups remain underrepresented, and data for preterm and low-weight infants are still limited. Most existing nomograms are derived from European and North American populations, with sparse data from Asia and very limited data from Africa and South America. Nomograms for preterm and low-weight infants are few and cover only selected cardiac structures. Although diastolic parameter nomograms are available, the data remain heterogeneous due to challenges in normalizing functional parameters according to age and body size. The accessibility of current nomograms has greatly improved with the development of online calculators and mobile applications. Ideally, integration of nomograms into echocardiographic machines and reporting systems should be pursued. Future studies are needed to develop broader, more comprehensive, and multi-ethnic nomograms, with better representation of preterm and low-weight populations, and to validate new parameters derived from emerging three- and four-dimensional echocardiographic techniques.

Background/Objectives: While speckle-tracking echocardiography (STE) is increasingly gaining acceptance in the medical community, establishing normal pediatric values and interpreting data derived from software provided by various vendors can pose significant challenges. This review aims to present an updated compilation of nomograms pertinent to speckle-tracking echocardiography. Methods: A review of research using three medical engine searches (National Library of Medicine, Science Direct, and Cochrane Library) for Medical Subject Headings (MeSH) and the free text terms “echocardiography”, “STE”, “normal values”, and ”children” was performed and refined by adding the keywords “nomograms”, “z-scores”, and “healthy children”. Results: A total of twenty-five studies were selected for the final analysis. Our research indicated that current nomograms provide adequate coverage of most strain parameters; however, those pertaining to the right ventricle and the atria are less numerous than those for the left ventricle. A noted trend suggests a decrease in strain values with advancing age and increasing body surface area; nevertheless, the relationships observed were weak and nonlinear. The absence of robust correlations between strain values and age and body size parameters hindered the generation of a Z-score possessing sufficient statistical power. Consequently, normal values are primarily represented as mean values accompanied by standard deviation. A comparative analysis of vendors demonstrated good agreement between different versions of the same platform for Philips (except for QLAB 5) and, similarly, between General Electric (GE) and TomTec. The limited data available regarding the comparison between GE and Philips revealed significant findings that warrant further investigation of differences. Conclusions: A comprehensive review and an updated list of current pediatric nomograms for STE measurements have been presented. This may serve as a valuable guide for accurately interpreting STE in pediatric patients with congenital and acquired heart disease.

Background: Although coronary artery nomograms in children have been published, data on Caucasian children are lacking. The aim of this study is to provide: (i) a full dataset of coronary artery diameters in healthy children and (ii) a comparison among major previous nomograms. Materials and Methods: We prospectively evaluated 606 healthy subjects (age range, 1 days–2 scores, were logarithmic (ln[y] = a + b*ln[x]). Predicted values and Z-score boundaries by BSA are provided. Our ranges of normality are slightly lower than those, diverging from −0.22 to −0.59 Z-scores for the left main coronary artery and from −0.23 to −0.3 Z-scores for the right coronary artery. Conclusions: We report a complete dataset of normal echocardiography coronary artery diameter (including new measures of the proximal origin) values in a large population of healthy children. Our data were statistically like those of north American nomograms.

Background: Echocardiographic myocardial work is a new load-independent echocardiographic technique to quantify left ventricle (LV) systolic performance. Our aim was to establish normal values for echocardiographic myocardial work in a large population of healthy children. Methods: For all the subjects 4-, 2-, and 3-chamber-view videos were stored. The following parameters were obtained by offline analysis: the global myocardial work (GMW), the global myocardial constructive work (GCW), the global myocardial wasted work (GWW), and the global myocardial work efficiency (GWE). Age, weight, height, heart rate, and body surface area (BSA) were used as independent variables in the statistical analysis. Results: In all, 516 healthy subjects (age range, 1 day—18 years; median age, 8.2 ± 5.3 years; 55.8% male; body surface area (BSA) range, 0.16 to 2.12 m²) were included. GWI, GCW, and GWW increased with weight, height, and BSA (ρ ranging from 0.635 to 0.226, p all < 0.01); GWI and GCW positively correlated with age (ρ 0.653 and 0.507). After adjusting for BSA differences, females showed higher mean GWI (p = 0.002) and GCW values (p < 0.001), thus Z-score equations for gender have been presented. Conclusions: We provided MW values in a large population of healthy pediatric subjects including lower ages. MW values increased with age and body size and, interestingly, were higher in females than in men. These data cover a gap in current nomograms and may serve as a baseline for the evaluation of MW analysis in children with congenital and acquired heart diseases.

This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS). The population included all live births residing in Tuscany (Italy) diagnosed with DS recorded in the Registry of Congenital Defects and in the Registry of Rare Diseases of Tuscany in the years 2003–2017. The prevalence of CH and OH in DS patients was calculated by sex and by period. The association of CH and OH with CHDs in DS patients was assessed using multivariate logistic regression. The cohort included 228 subjects. The prevalence of CH and OH was 11.4% (95%CI: 7.4–16.7%) and 12.7% (95%CI: 8.5–12.3%), respectively, with no significant difference by sex. A significant increase in the prevalence of CH (p < 0.0001) was found in the years 2010–2017 compared to the previous period, and among preterm infants (p = 0.009). The presence of CH was associated with a higher prevalence of CHDs (adjusted OR = 2.24, p = 0.082). A significant association between ventricular septal defects (VSDs) and the occurrence of OH (adjusted OR = 3.07, p = 0.025) was also observed. This study confirmed the higher prevalence of both CH and OH in DS compared to the general population. Furthermore, the risk of association between DS and CHDs was higher in the presence of CH, while VSDs are associated with OH, providing relevant insights into the epidemiology of hypothyroidism in DS and associated anomalies.

Despite significant improvements in techniques, the treatment of neonates and infants with congenital heart disease resulting in duct-dependent pulmonary circulation is still significantly challenging. Despite current trends toward early primary surgical repair, temporary palliation is still necessary in those patients who are at high surgical risk for complete correction due to unfavorable clinical or anatomic characteristics. Recent advances in interventional cardiology have led to the emergence of right ventricular outflow tract and arterial duct stenting as cost-effective alternatives to surgical palliation in high-risk surgical candidates or whenever short-term pulmonary blood flow support is anticipated. This review aims to explore the evolving landscape of these transcatheter approaches, highlighting their role, efficacy and potential complications in the context of duct-dependent pulmonary circulation anatomies.

Background: The decision to perform biventricular repair (BVR) in neonates and infants presenting with either single or multiple left ventricle outflow obstructions (LVOTOs) and a borderline left ventricle (BLV) is subject to extensive discussion, and limited information is known regarding the long-term outcomes. As a result, the objective of this study is to critically assess and summarize the available data regarding the prognosis of neonates and infants with LVOTO and BLV who underwent BVR. Methods: In February 2023, we conducted a review study with three different medical search engines (the National Library of Medicine, Science Direct, and Cochrane Library) for Medical Subject Headings and free text terms including “congenital heart disease”, “outcome”, and “borderline left ventricle”. The search was refined by adding keywords for “Shone’s complex”, “complex LVOT obstruction”, “hypoplastic left heart syndrome/complex”, and “critical aortic stenosis”. Results: Out of a total of 51 studies, 15 studies were included in the final analysis. The authors utilized heterogeneous definitions to characterize BLV, resulting in considerable variation in inclusion criteria among studies. Three distinct categories of studies were identified, encompassing those specifically designed to evaluate BLV, those focused on Shone’s complex, and finally those on aortic stenosis. Despite the challenges associated with comparing data originating from slightly different cardiac defects and from different eras, our results indicate a favorable survival rate and clinical outcome following BVR. However, the incidence of reintervention remains high, and concerns persist regarding residual pulmonary hypertension, which has been inadequately investigated. Conclusions: The available data concerning neonates and infants with LVOTO and BLV who undergo BVR are inadequate and fragmented. Consequently, large-scale studies are necessary to fully ascertain the long-term outcome of these complex defects.