Anna Sabaté-Rotés

Background: Cardiac magnetic resonance (CMR) enables the quantitative characterization of myocardial tissue through parametric myocardial tissue mapping. It shows a strong correlation with invasive histologic techniques in assessing diffuse myocardial fibrosis using native T1 mapping and extracellular volume (ECV), as well as in assessing myocardial edema with T2 mapping. Pediatric applicability is currently limited by a lack of specific reference values for this population, with no recommendations available from the Society of Cardiac Magnetic Resonance. Objective: To determine reference values for global left ventricular native T1, T2 mapping, and extracellular volume fraction and to assess the influence of age, heart rate, body surface area, and sex on these parameters in children and adolescents. Materials and methods: Data were retrospectively collected between 2018 and 2024. A total of 194 healthy children aged up to 17 years underwent CMR. The participants had a mean age of 12.6 (3.4) CI [12.1; 13.1] years (range 0.3–17), and 41% were female. A 1.5-T Siemens MAGNETOM Avanto Fit scanner was used. Native T1 mapping was performed at the base, mid-chamber, and apex of the left ventricle in the short-axis view at end-diastole using a MOLLI sequence, before and 15 min after the administration of a gadobutrol-based contrast agent. T2 mapping was performed before contrast administration at the base, mid-chamber, and apex of the left ventricle at end-diastole using a dark blood turbo spin echo sequence featuring a T2 preparation pulse and a balanced steady-state free precession (bSSFP). Linear regression models were employed to explore the relationships between native T1, ECV, and T2 mapping values and heart rate, age, and body surface area (BSA). Results: The results showed a mean global native T1 of 1004±37 ms, ECV of 25.9±3.6%, and T2 of 48.8±4 ms. T1 and ECV values were negatively correlated with age and BSA ( P P P P =0.953 in the septum and P =0.445 in the free wall). Native T1 values were significantly higher in female patients than in males when analyzed separately for the interventricular septum and the left ventricular free wall ( P =0.014 and P =0.001). Conclusion: This study provides a median range of values in native T1, T2 mapping, and ECV in a pediatric population. The low number of participants under the age of 6 should be taken into account in the results of our study. Our findings corroborate that native T1 is influenced by both age and heart rate, while T2 is primarily affected by age alone. We observed higher native T1 values in females, highlighting the need for separate, sex-specific reference ranges. Therefore, age, heart rate, and sex should be considered in pediatric myocardial mapping.

This document has been developed to provide a practical guide for the application of speckle tracking echocardiography (STE) in paediatric and congenital heart diseases. In the present document, the following topics are reviewed and discussed: (i) the basic principles of STE, its potential applications, and limitations in the paediatric population; (ii) normal paediatric reference values for STE; and (iii) the use of STE in various congenital and acquired heart diseases. The potential role of routine STE in the management and follow-up of paediatric and congenital heart disease is explored, with practical examples illustrating how STE can provide additional insights beyond conventional echocardiographic parameters. Limitations regarding clinical interpretation, prognostic value, the lack of standardized timing for measurements, and the absence of universally accepted thresholds for STE-derived strain parameters are also highlighted. Overall, this document is intended to serve as a comprehensive guide to (i) orient clinicians regarding the strengths and limitations of STE in paediatric and congenital heart disease; (ii) identify specific clinical scenarios where STE may be particularly informative; and (iii) encourage future research and multicentre collaborative studies. By providing both practical guidance and a framework for further investigation, the document aims to support standardized use of STE, improve patient care, and foster the integration of this technique into routine paediatric and congenital cardiology practice.

Cross-sectional cardiac imaging including cardiac computed tomography (CCT) and cardiac magnetic resonance imaging (CMR) allows three-dimensional imaging of intracardiac and extracardiac structures. This study was undertaken to better understand current European practice of pediatric cardiology cross-sectional imaging, in addition to how training is undertaken in different centers. A structured detailed 64-question survey focusing on cross-sectional imaging was circulated to all Imaging Working Group members of the 95 AEPC affiliated centers. Consultants from 42 centers (44%) from 25 different European countries completed the survey, between 7th July 2024 and 28th October 2024. Ninety percent of centers have been performing pediatric CCT for > 10 years, with median 135 scans/year. Comparatively, 84% of centers have been performing CMR for > 10 years, with a median 200 scans/year. CCT was performed by a pediatric radiologist, whereas CMR was more often performed by a pediatric cardiologist, but frequently both modalities were undertaken by a combination of pediatric cardiologists and radiologists. Less than two-third of centers surveyed train fellows in CMR or CCT. Many fellows travel abroad to obtain specialist training. Just over half of the centers surveyed have institutional guidelines for pediatric CCT/CMR, with the majority agreeing that provision of European (AEPC-led) guidelines for pediatric CCT/CMR would be helpful. Across Europe there is significant variation in how CCT/CMR is performed and how pediatric cardiologists are trained in cross-sectional imaging. This survey highlights the current state of cross-sectional imaging in Europe, challenges faced, but also explores potential solutions to standardize European cross-sectional imaging.

Macitentan seems to improve outcomes in patients with pulmonary arterial hypertension (PAH). Nevertheless, safety and efficacy in pediatric patients is still to be determined. Multi-center, observational study to assess safety and efficacy of oral macitentan in patients under 18 years-of-age from the Spanish Registry of Pediatric Pulmonary Hypertension with group 1 PAH. Outcome measures included changes in the World Health Organization Functional Class (WHO FC) from baseline to month 6, 6-min walking distance (6MWD), NT‐proBNP levels, risk-stratification, echocardiographic and hemodynamic parameters, and Pediatric Quality of Life Inventory. Seventy-four patients (median age 9.6 years) with PAH were included in the study, of which thirty-one had idiopathic/heritable pulmonary arterial hypertension and 43 had PAH associated with congenital heart disease. Significant clinical improvement was observed after 6 months of treatment with macitentan: The percentage of patients on WHO FC III/IV decreased from 48 to 22% (p = 0.001); mean 6MWD (n = 42) increased significantly in around 45 m (p = 0.032); NT‐proBNP decreased a mean of − 438.9 ± 175 pg/ml, (p = 0.015). There was a 17% increase in the number of patients meeting all three low‐risk parameters of 17% (p = 0.002). Side effects were detected in four patients (5.4%). Macitentan was discontinued in one patient. Disease progression was observed in 6 patients despite macitentan therapy. This study provided evidence on the clinical benefits and good tolerance of macitentan in paediatric population with group I PAH treated in routine clinical practice.

Marfan syndrome (MFS) is a hereditary connective tissue disorder with an estimated prevalence of 1:5000–1:10 000 individuals. It is a pleiotropic disease characterized by specific ocular, cardiovascular, and skeletal features. The most common cardiovascular complication is aortic root dilatation which untreated can lead to life-threatening aortic root dissection, mainly occurring in adult patients. Prompt diagnosis, appropriate follow-up, and timely treatment can prevent aortic events. Currently there are no specific recommendations for treatment of children with MFS, and management is greatly based on adult guidelines. Furthermore, due to the scarcity of studies including children, there is a lack of uniform treatment across different centres. This consensus document aims at bridging these gaps of knowledge. This work is a joint collaboration between the paediatric subgroup of the European Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease Working Group) and the Association for European Paediatric and Congenital Cardiology (AEPC). A group of experts from 12 different centres and 8 different countries participated in this effort. This document reviews four main subjects, namely, (i) imaging of the aorta at diagnosis and follow-up, (ii) recommendations on medical treatment, (iii) recommendations on surgical treatment, and (iv) recommendations on sport participation.

Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms. We determined the frequency and gene content of rare CNVs in EBAV probands (n = 272) using genome-wide SNP microarray analysis and three complementary CNV detection algorithms (cnvPartition, PennCNV, and QuantiSNP). Unselected control genotypes from the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in a BAV cohort with late onset sporadic disease (n = 5040). We identified 3 large and rare (< 1,1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated was increased in case-control analysis. CNVs intersecting with GATA4 and DSCAM were enriched in cases, recurrent in other datasets, and segregated with disease in families. In total, we identified potentially pathogenic CNVs in 9% of EBAV cases, implicating alterations of candidate genes at these loci in the pathogenesis of BAV.

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults, but it can also cause childhood-onset complications. The presentation and clinical course of young adults who present due to BAV complications are relatively uncharacterized. In a multicenter study, we found that young people who experience significant complications related to BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early-onset BAV complications.

Dystrophinopathies, such as Duchenne and Becker muscular dystrophy, frequently lead to cardiomyopathy, being its primary cause of mortality. Detecting cardiac dysfunction early is crucial, but current imaging methods lack insight into microstructural remodeling. This study aims to assess the potential of cardiac magnetic resonance (CMR) parametric mappings for early detection of myocardial involvement in dystrophinopathies and explores whether distinct involvement patterns may indicate impending dysfunction. In this prospective study, 23 dystrophinopathy patients underwent CMR with tissue mappings. To establish a basis for comparison, a control group of 173 subjects was analyzed. CMR protocols included SSFP, T2-weighted and T1-weighted sequences pre and post gadolinium, and tissue mappings for native T1 (nT1), extracellular volume (ECV), and T2 relaxation times. The difference between the left ventricular posterior wall and the interventricular septum was calculated to reveal asymmetric myocardial involvement. Significant differences in LV ejection fraction (LVEF), myocardial mass, and late gadolinium enhancement confirmed abnormalities in patients. Tissue mappings: nT1 (p < 0.001) and ECV (p = 0.002), but not T2, displayed substantial variations, suggesting sensitivity to myocardial involvement. Asymmetric myocardial involvement in nT1 (p = 0.01) and ECV (p = 0.012) between septal and LV posterior wall regions was significant. While higher mapping values didn’t correlate with dysfunction, asymmetric involvement in nT1 (ρ=-0.472, p = 0.023) and ECV (ρ=-0.460, p = 0.049) exhibited a significant negative correlation with LVEF. CMR mappings show promise in early myocardial damage detection in dystrophinopathies. Although mapping values may not directly correspond to dysfunction, the negative correlation between asymmetric involvement in nT1 and ECV with LVEF suggests their potential as early biomarkers. Larger, longitudinal studies are needed for a comprehensive understanding and improved risk stratification in dystrophinopathies.