Search Results (128)

Background: Heart failure (HF) remains a major complication of acyanotic congenital heart disease (CHD) in children. Evidence integrating clinical and echocardiographic variables for HF severity stratification in pediatric acyanotic CHD remains limited. This study aimed to identify factors associated with moderate HF and develop an exploratory internally validated prediction model. Methods: This retrospective single-center outpatient study included 219 children aged 0–16 years with acyanotic CHD, identified from medical records spanning January 2023 to December 2025. Moderate HF was defined as Ross score 7–9 (≤5 years) or NYHA class III (>5 years). Multivariable analysis was performed using Firth’s penalized logistic regression. Internal validation used bootstrap optimism correction and leave-one-out cross-validation (LOOCV). Model discrimination was assessed using area under the receiver operating characteristic curve (AUC). Results: Moderate HF was identified in 131 patients (59.8%). LV remodelling defined by LVIDD z-score > +2 (adjusted OR 3.70, 95% CI 1.22–11.24; p = 0.021) and higher mean pulmonary arterial pressure (MPAP) (adjusted OR 1.03 per mmHg, 95% CI 1.00–1.06; p = 0.049) were independently associated with moderate HF. Premature birth showed an inverse association with moderate HF (adjusted OR 0.25, 95% CI 0.13–0.48; p < 0.001). The exploratory five-variable model demonstrated acceptable discrimination (apparent AUC 0.780, 95% CI 0.728–0.849; bootstrap-corrected AUC 0.760; LOOCV AUC 0.749, 95% CI 0.681–0.811), with adequate calibration. An MPAP threshold of ≥26.4 mmHg yielded 78.6% sensitivity for moderate HF identification. Conclusions: LV remodelling and elevated MPAP were independently associated with moderate HF in children with acyanotic CHD. The exploratory internally validated model demonstrated acceptable discrimination using routinely available variables. This model is exploratory and not yet ready for clinical use; prospective multicenter external validation is required before any clinical implementation. Full article

Background/Objectives: Ventricular septal defect (VSD) is the most common congenital heart disease in children and is often associated with growth impairment and malnutrition. Increased metabolic demand, feeding difficulties, and recurrent infections contribute to poor nutritional status. Insulin-like growth factor-1 (IGF-1), a key mediator of growth hormone activity, reflects nutritional and metabolic conditions. Previous studies have evaluated endocrine and growth abnormalities in heterogeneous congenital heart disease populations. However, data specifically examining the relationship between serum IGF-1 levels and nutritional status in isolated pediatric ventricular septal defect remain limited, particularly in Southeast Asian populations. Methods: The single centre observational case–control study was conducted at Dr. Soetomo Hospital, Surabaya, involving 110 children (55 VSD patients and 55 healthy controls). VSD diagnosis was confirmed by echocardiography. Nutritional status was assessed using WHO anthropometric criteria. Serum IGF-1 levels were measured using ELISA. Statistical analyses compared IGF-1 levels between groups and across nutritional categories. Results: Moderate and severe wasting were more common in the VSD group. Median IGF-1 levels were significantly lower in VSD patients compared to controls (5.18 vs. 21.4 ng/mL; p < 0.001). A positive association between IGF-1 levels and nutritional status was observed. Conclusions: Children with VSD have poorer nutritional status and significantly lower IGF-1 levels compared to healthy controls. This association may be explained by the dysregulation of the growth hormone–IGF-1 axis. IGF-1 may complement nutritional assessment for identifying and monitoring growth impairment and guiding early nutritional interventions in pediatric VSD. Full article

Doxorubicin (Dox) is a cornerstone in the treatment of pediatric acute lymphoblastic leukemia (ALL), but its use is limited by dose-dependent cardiotoxicity. Oxidative stress, arising from mitochondrial dysfunction, enzymatic generation of reactive oxygen species, and cardiotoxic metabolites, has been implicated as a central mechanism, with interindividual variability partly influenced by genetic factors. This study evaluated oxidative DNA damage 8-hydroxy-2′-deoxyguanosine (8-OHdG) as an integrative marker of redox-related pathways in Dox-induced cardiotoxicity. In a prospective case–control study, 93 pediatric patients with ALL treated with Dox and 63 controls were included. Cardiotoxicity was assessed by serial echocardiography, and 8-OHdG levels were measured by ELISA. Genotyping of ABCC1 rs3743527, NCF4 rs1883112, and CBR3 rs1056892 was performed, and multivariable analyses were conducted. Dox-treated patients showed higher 8-OHdG levels than controls, and patients with cardiotoxicity (n = 11) had higher levels than those without. A higher frequency and severity of cardiotoxicity was observed in female patients, although this finding should be interpreted cautiously. Although allele frequencies did not reach statistical significance, distinct distribution patterns were observed between groups. These findings suggest that 8-OHdG may function as an integrative marker of redox dysfunction associated with Dox-induced cardiotoxicity. Full article

Background/Objectives: Teratomas of the sacrococcygeal region are rare, but the most common tumors found in fetuses. They develop from the three germ layers—mesoderm, ectoderm, and endoderm—and occur at a rate of 1 in 27,000 to 1 in 40,000, with a fourfold higher incidence in female fetuses. 63.9–74% of sacrococcygeal teratomas are detected prenatally, most often in the second trimester. Methods: This study reports the case of a woman in her second pregnancy at 29 weeks and 2 days gestation who was incidentally diagnosed with tumor-like lesion in the sacrococcygeal region of fetus. The clinical situation required the pregnancy to be delivered by emergency cesarean section, and the tumor was surgically removed within the first few days of life. The lesion was finally diagnosed as an immature teratoma, and appropriate management was initiated, resulting in stabilization of the child’s general condition and proper development. Results: Detailed imaging and characterization of the lesion are essential for determining the appropriate management and minimizing foreseeable obstetric and neonatal complications. Fetal echocardiography in cases of suspected teratoma in the sacrococcygeal region is essential for identifying life-threatening risk factors and influences the planning of further management. The choice of treatment depends on the clinical situation; among intrauterine interventions and pharmacological therapy, it has been demonstrated that surgical removal of the lesion within the first days of life reduces the risk of recurrence. Conclusions: In any case where lesion such as tumor of the sacrococcygeal region of fetus is suspected, the pregnant woman should be managed at a tertiary care center to ensure multidisciplinary care involving obstetricians, neonatologists, pediatric surgeons, and oncologists. This study provides a review of the literature on methods of diagnosis and treatment of sacrococcygeal teratomas in fetuses. It emphasizes the importance of accurate diagnosis and prenatal care in such cases and their impact on further management. Full article

Artificial intelligence (AI) is rapidly transforming cardiovascular medicine, with growing applications in pediatric cardiology. AI techniques, particularly machine learning and deep learning, enable the analysis of complex and heterogeneous data, supporting diagnosis, risk stratification, and clinical decision-making. This paper provides an overview of current AI applications in this field, discusses existing challenges, and explores future perspectives. In pediatric cardiology, AI has shown promising results across multiple domains. In electrocardiography, AI algorithms improve diagnostic accuracy and enable early detection of cardiac conditions, even in asymptomatic patients, while facilitating telecardiology-based care pathways. In cardiac auscultation, AI-assisted digital stethoscopes enhance the distinction between innocent and pathological murmurs, supporting primary care physicians and optimizing referral to pediatric cardiologic centers. Multimodality imaging represents one of the most advanced areas of AI applications. In echocardiography, magnetic resonance and computed tomography, AI improves image acquisition, view classification, and automated quantification, contributing to more standardized and reproducible assessments. Additionally, emerging technologies such as virtual reality, integrated with AI, offer innovative tools for education, surgical planning, and patient-specific modelling. Despite these advances, several limitations remain, including limited availability of large pediatric datasets, challenges in model generalizability and issues related to interpretability and integration into clinical workflows. In conclusion, AI represents a powerful complementary tool in pediatric cardiology, with the potential to improve diagnostic accuracy, optimize healthcare resources and support the transition toward precision medicine. Full article

Background: Pulmonary arterial hypertension is a rare but life-threatening condition in children, with hereditary forms often being linked to mutations in genes such as bone morphogenetic protein receptor type 2 (BMPR2), caveolin 1 (CAV1), and potassium channel subfamily K member 3 (KCNK3). Among these, CAV1 mutations are associated with severe disease phenotypes, though cases resulting from de novo heterozygous CAV1 mutations with multi-system involvement remain rarely reported. The CAV1 mutation (c.424C > T, p.Q142X) disrupts caveolin-1 function, leading to dysregulated pulmonary vascular remodeling and multi-system abnormalities. Methods: This was a retrospective case study of a pediatric patient with hereditary PAH. The patient was followed at our hospital from initial presentation until death. Clinical data were collected from medical records, including physical examinations, laboratory tests, echocardiography, chest X-ray, computed tomography pulmonary angiography (CTPA), and genetic analysis. The patient was treated sequentially with various PAH-targeted medications. This report also includes a review of the relevant literature on CAV1-associated PAH. Results: A female aged 3 years and 11 months was diagnosed with hereditary PAH associated with a de novo heterozygous CAV1 mutation (c.424C > T, p.Q142X). Both parents underwent genetic testing and were negative for the mutation, confirming its de novo origin. Clinical manifestations included special facial features, congenital telangiectasia, cutis marmorata (marbled skin), congenital cataract, hereditary lipodystrophy, and severe PAH. The patient presented with progressive exercise intolerance, syncope, and worsening dyspnea over nine years. Echocardiography revealed pulmonary hypertension with an estimated pulmonary artery systolic pressure of 69–105 mmHg, right heart enlargement, right ventricular hypertrophy, and moderate tricuspid regurgitation. Blood and urine metabolic screenings were normal. A chest X-ray showed progressive enlargement of the cardiac silhouette and bulging of the pulmonary artery segment. CTPA demonstrated pulmonary hypertension, secondary right heart dysfunction, decompensated right ventricular function, and mosaic perfusion in both lungs, suggestive of small arterial branch occlusion. Right heart catheterization was declined by the parents. Thus, the diagnosis of PAH was established based on clinical, echocardiographic, CTPA, and genetic findings. The patient was hospitalized four times and lost to follow-up from 2017 to 2023. She received sequential treatment with digoxin, hydrochlorothiazide, tadalafil, ambrisentan, selexipag, and treprostinil. Despite these therapies, pulmonary artery pressure continued to rise with progressive clinical deterioration. The patient ultimately died at 13 years of age due to a pulmonary hypertensive crisis and multiple organ failure following a severe episode of gastroenteritis. Conclusions: Despite aggressive treatment with multiple targeted reduced pulmonary artery pressure drug therapies, managing hereditary PAH caused by CAV1 mutations in children remains a significant challenge, with a high mortality rate. Early genetic diagnosis, regular follow-up, and individualized treatment are crucial. It requires the joint efforts of patients, parents, and healthcare providers. Full article

Background: Cardiac tamponade (CT) is a rare but life-threatening medical emergency caused by fluid accumulation in the pericardial sac, impairing cardiac filling and reducing output. More than 20% of CT cases are iatrogenic. CT is a recognized complication of central venous catheter (CVC) placement, with mortality rates in pediatric patients reported to reach 50%. Clinical presentation is often nonspecific, and echocardiography remains the diagnostic gold standard. Case report: We present two pediatric cases of CT due to late CVC migration, managed in the pediatric intensive care unit (PICU). The first case involved a 25-day-old neonate with short bowel syndrome who received prolonged parenteral nutrition via CVC. Four days after catheter insertion, the patient developed sudden cardiocirculatory collapse. The second case featured a 2-year-old child with Leigh syndrome who required mechanical ventilation and multimodal pharmacological therapy. Six days after CVC placement, the patient developed acute hemodynamic deterioration. In both cases, echocardiography confirmed CT, while chest radiography suggested intracardiac positioning of the catheter tip. Management and outcome: Emergency pericardiocentesis and advanced cardiopulmonary resuscitation were performed. Despite transient hemodynamic stabilization, both patients developed multiorgan failure with fatal outcomes. Conclusions: CT is a critical complication in pediatric patients with CVCs. Accurate verification of catheter tip position is essential, and intracardiac placement should be avoided. Any sudden clinical deterioration in a patient with a CVC should raise suspicion of late catheter migration and requires immediate life-saving intervention. Full article

Background: Echocardiography is a non-invasive test that is readily used to detect pulmonary hypertension associated with bronchopulmonary dysplasia (BPD-PH) and right ventricular failure (RVF). However, the most feasible, reproducible and accurate parameters to measure and use for guidance in addressing patient care have not been established and may differ between subspecialties. Methods: We surveyed members of the BPD Collaborative to determine how different care providers clinically evaluate infants for BPD-PH and RVF. Perceived challenges and obstacles that limit the utility of echocardiography are also reported. Results: Of the 108 survey respondents from ~45 centers, 55.6% were neonatologists, 18.5% were pediatric pulmonologists or pediatric intensive care physicians, 15.7% were pediatric cardiologists or pulmonary hypertension specialists, and 10.2% were other providers. Responses revealed discrepancies between specialists concerning the use of standard echocardiographic protocols and parameters that can be measured serially with relative ease, metrics that should be used to best define and distinguish the severity of BPD-PH or RVF, and parameter values that should be used to determine whether changes in PH-targeted medical therapies, hemodynamic or respiratory support are needed. Free text responses identified patient-, protocol-, cardiology-, technician-, and BPD-PH definition-related obstacles that may limit the reliable utility of echocardiography. Conclusions: Although most providers agree that echocardiography is feasible and of value, variability exists between subspecialists and centers, suggesting the need for improved standardization of imaging protocols and BPD-PH definition, consistent test interpretation, and effective communication of results to improve the reproducibility and accuracy of echocardiography in infants with BPD. Full article

Background: Children with β-thalassemia major (β-TM) survive longer due to advances in transfusion and chelation therapy; however, cardiovascular complications have emerged as a leading cause of long-term morbidity. Chronic hemolysis, oxidative stress, and iron overload may promote early endothelial dysfunction and premature vascular aging, yet their impact on myocardial deformation in pediatric patients remains incompletely characterized. Objectives: To evaluate subclinical myocardial dysfunction and arterial stiffness in children with β-TM and to investigate hemolysis-related changes in asymmetric dimethylarginine (ADMA) and L-arginine as biomarkers of endothelial dysfunction in relation to cardiovascular involvement. Methods: Twenty-four children with β-TM and 20 age-matched healthy controls were included. Cardiac structure and myocardial deformation were assessed by conventional echocardiography, tissue Doppler imaging, and speckle-tracking strain analysis. Arterial stiffness was evaluated using oscillometric pulse wave analysis and bilateral carotid intima–media thickness (CIMT). Serum ADMA and L-arginine levels were measured, and hemoglobin, reticulocyte count, and ferritin levels were recorded. Results: Children with β-thalassemia major demonstrated significantly increased arterial stiffness compared with controls, including higher PWV (4.61 ± 0.37 vs. 4.38 ± 0.31), AIx@75 (augmentation index at 75 bpm) (28.5 ± 8.34 vs. 22.8 ± 6.51), left CIMT [0.45 (0.39–0.51) vs. 0.41 (0.38–0.46)], and right CIMT [0.43 (0.39–0.54) vs. 0.40 (0.34–0.46)]. In addition, patients exhibited reduced global longitudinal strain (−19.3 ± 2.91 vs. −21.84 ± 1.91), prolonged isovolumetric relaxation time [53 (37–71) vs. 45 (37–55)], and elevated E/Em (8.44 ± 2.19 vs. 6.92 ± 1.10). ADMA levels were significantly higher in patients (0.54 ± 0.19 vs. 0.39 ± 0.22) and were positively associated with reticulocyte counts and inversely correlated with hemoglobin levels. In addition, both ADMA and ferritin levels were positively correlated with arterial stiffness indices and left ventricular filling pressures. Conclusions: Children with β-thalassemia major exhibit features suggestive of early cardiovascular aging, including impaired myocardial deformation, diastolic involvement, and increased arterial stiffness. The observed association between ADMA levels and markers of hemolysis, vascular stiffness, and myocardial deformation highlights the potential involvement of endothelial dysfunction in premature myocardial–vascular remodeling. These findings suggest that ADMA may serve as a promising biomarker for early cardiovascular risk in pediatric β-thalassemia major; however, further longitudinal and multi-center studies are needed to confirm its clinical utility for risk stratification. Full article

Left-ventricular non-compaction (LVNC) is a recently classified cardiomyopathy that involves abnormal trabeculations inside the left ventricle, most commonly located in the ventricular apex. There are 9 distinct types of non-compaction cardiomyopathy that can impact both the left and right ventricles with subtypes involving mostly pediatric patients with concurrent congenital heart disease (CHD), to individuals in late adult-staged ages. LVNC affects the population with an estimated range of incidence from 0.014% to 1.3% and the disease can be diagnosed with the utilization of imaging studies such as transthoracic echocardiography (TTE). LVNC can also impact and lead patients to develop heart failure with estimated prevalence that can reach to 3–4% during their lifetime. LVNC often leads to complications such as heart failure, arrhythmias, and thromboembolic events and without adequate medical management and pharmacological therapies this can progress and lead to worsening cardiac function, sudden cardiac arrest, and even death. There are no strict guidelines organized for screening and monitoring for LVNC in patients except with the inclusion of having a high suspicion in patients without other cardiac abnormalities. Thus, more advanced clinical research and the establishment of diagnostic protocols needs to be standardized in order to further investigate the causes, prognostic factors and therapeutic modalities of patients with LVNC. The field of LVNC cardiomyopathy is expanding but better understanding of the pathophysiology and genetic influence of this cardiac disease is vital for the precision treatment and personalized care of LVNC. Full article

Dilated cardiomyopathy (DCM) in children is rare, but carries a high risk of progression to advanced heart failure (HF) and heart transplant (HTx). Improved short-term risk stratification is essential; however, robust pediatric prognostic tools remain limited. We aimed to evaluate the 1-year prognostic value of multichamber speckle-tracking echocardiography (STE) and biomarkers, including age-adjusted N-terminal pro-B-type natriuretic peptide (NT-proBNP) and vitamin D, in children with DCM. In this single-centre prospective cohort study, 29 children with idiopathic DCM and 27 age- and sex-matched healthy controls underwent standardised clinical, laboratory, and echocardiographic assessment. The primary endpoint was a 12-month composite of implantation of an implantable cardioverter-defibrillator (ICD), left-ventricular assist device (LVAD), HTx, or all-cause mortality. During a 1-year follow-up, 9/29 (31%) DCM patients experienced major events. Compared with event-free patients and controls, children with events had more impaired LVGLS (−5.99 ± 2.45% vs. −13.44 ± 6.88% and −19.98 ± 3.25%), lower LASr (10.97 ± 7.67% vs. 25.36 ± 10.28% and 44.0 ± 11.43%), and reduced RVFWSL (−15.32 ± 5.24% vs. −23.13 ± 8.55% and −24.78 ± 4.45%; all p < 0.01). Zlog NT-proBNP was markedly higher in the event group (5.37 [5.00–6.08] vs. 2.28 [0.71–3.68] and 0.14 [−0.02–0.88]). LVGLS, Zlog NT-proBNP, and LASr showed excellent discrimination for 1-year events (AUC 0.91, 0.91, and 0.87, respectively), with clinically applicable cut-offs (LVGLS ≥ −8%, Zlog NT-proBNP ≥ 4.6, LASr ≤ 21%). In conclusion, multichamber strain imaging combined with age-adjusted NT-proBNP provides clinically relevant, exploratory markers for short-term risk stratification in pediatric DCM, supporting earlier intensification of follow-up and timely referral for advanced heart failure therapies. These findings warrant validation in larger multicenter cohorts. Full article

Background: Septic cardiomyopathy (SCM) is a dynamic and heterogeneous complication of sepsis, driven by systemic inflammation, autonomic dysregulation, and microcirculatory alterations. Pediatric and adult patients share common pathophysiologic mechanisms, but age-dependent differences in cardiovascular physiology produce distinct hemodynamic responses. Methods: A structured narrative review of clinical and experimental studies published between 2000 and 2025 was conducted via PubMed and major critical care literature. Studies were included if they addressed SCM pathophysiology, hemodynamic monitoring, and therapeutic strategies across age groups, while studies focusing on non-septic cardiac dysfunction were excluded. Results: Adult SCM often presents as hyperdynamic, vasoplegic states, whereas pediatric patients more frequently exhibit hypodynamic profiles, reflecting developmental differences in myocardial reserve and autonomic regulation. Evidence suggests that isolated conventional echocardiographic parameters may underestimate myocardial impairment, whereas advanced modalities, including myocardial strain echocardiography and multimodal hemodynamic monitoring, may serve as complementary tools to detect subtle or evolving myocardial dysfunction. Pediatric evidence remains limited, and therapeutic guidance is largely extrapolated from adult studies. Conclusions: SCM should be approached as a time-dependent, physiology-driven condition, requiring repeated, integrated multimodal cardiovascular assessment to guide individualized management. Age-specific hemodynamic profiles highlight the need for standardized diagnostics, prospective validation of monitoring tools, and phenotype-guided interventions to improve outcomes in both adult and pediatric sepsis. Full article

Introduction: Congenital structural anomalies of the pulmonary artery in children, encompassing defects such as pulmonary atresia (PA), pulmonary stenosis (PS), pulmonary artery hypoplasia, and tetralogy of Fallot (ToF), pose significant challenges in pediatric cardiac surgery due to impaired blood flow in pulmonary circulation. Traditional options for conventional repair—including autologous materials such as the native pericardium and synthetic materials such as artificial patches—have limitations including a lack of growth potential and vulnerability to restenosis over time. ProxiCor^® patches, based on the extracellular matrix (ECM), have emerged as biologically compatible substitutes capable of fostering tissue regeneration. The primary outcomes of this study were the safety (absence of patch-related complications such as restenosis, dilation, aneurysm, infection, or thrombosis) and feasibility (intraoperative handling and surgical success) of ProxiCor^® for pulmonary artery and right ventricular outflow tract (RVOT) reconstruction in a single-center pediatric cohort. Secondary outcomes included mortality, postoperative complications (prolonged mechanical ventilation > 72 h, need for continuous renal replacement therapy (CRRT), and intensive care unit (ICU) and hospital stay), and qualitative echocardiographic assessment of vessel patency during follow-up. Patients and methods: A retrospective analysis was conducted in 25 consecutive pediatric patients who underwent pulmonary artery or RVOT reconstruction with ProxiCor^® at the Department of Pediatric Cardiac Surgery in Poznań (Poland) between the years 2023 and 2024. Surgical techniques, clinical outcomes, and follow-up data were assessed using transthoracic echocardiography (TTE). Results: The median age was 224 (Q1–Q3: 124–362) days, and median weight was 4.2 (Q1–Q3: 2.8–8.5) kg. Procedures targeted repairs of the main pulmonary artery (MPA), right pulmonary artery (RPA), left pulmonary artery (LPA), and RVOT. Diagnoses included tetralogy of Fallot (ToF), pulmonary artery stenosis (PS), pulmonary atresia (PA), pulmonary artery hypoplasia, and anomalous left coronary artery from the pulmonary artery (ALCAPA). The mortality rate stood at 8% (2/25), stemming from multiorgan failure and hemorrhagic stroke, unrelated to the patch. Over a median observation period of 483 (Q1–Q3: 363–584) days, no patch-related complications (e.g., restenosis or dilation) arose. The median hospitalization time was 22 (Q1–Q3: 8.5–38.5) days. Conclusions: ProxiCor^® ECM patches appear to be safe and feasible for use in pulmonary artery and RVOT reconstruction, with favorable early outcomes. However, the small cohort size, lack of a control group, and limited mid- to long-term echocardiographic data preclude definitive conclusions about long-term outcomes or comparative effectiveness. Full article

Background and Clinical Significance: Scurvy, caused by chronic vitamin C deficiency, is re-emerging in Western countries, particularly among pediatric patients with highly selective diets. While its musculoskeletal and mucocutaneous manifestations are well-known, its association with pulmonary arterial hypertension (PAH) is rare and poorly understood. Ascorbic acid and iron are essential cofactors for prolyl hydroxylases (PHD), which regulate Hypoxia-Inducible Factors. Their combined deficiency may trigger a “pseudohypoxic” state, leading to pulmonary vascular remodeling and vasoconstriction. Case Presentation: A 30-month-old female presented with a one-month history of limping, lower limb pain, and gingival hypertrophy. Dietary history revealed an almost exclusive cow’s milk-based intake. Physical examination showed diffuse petechiae, pallor, and right knee edema. Laboratory findings confirmed scurvy (undetectable vitamin C), severe iron-deficiency anemia (Hb: 72 g/L; ferritin: 22 mcg/L; RDW: 30%), folate deficiency, and hyperhomocysteinemia. Notably, elevated copper and vitamin B12 levels suggested a state of metabolic dysregulation. Echocardiography revealed moderate PAH phenotype (estimated sPAP: 47–50 mmHg) and a hyperdynamic contractility. A “perfect storm” mechanism was hypothesized, involving iron–ascorbate-dependent PHD impairment, high-output state, and oxidative-stress-induced hepcidin dysregulation (suggested by elevated copper). Following intravenous vitamin C and multivitamin supplementation, pulmonary pressures normalized within one week. Conclusions: PAH phenotype in scurvy represents a reversible metabolic disruption of pulmonary vascular tone rather than a structural disease. This case underscores the synergistic role of vitamin C, iron, and folate in vascular homeostasis. Clinicians should maintain high suspicion for scurvy in children with selective diets and unexplained PAH, as nutritional restoration is curative. Full article

Background: Ventricular function assessments in Fontan patients remain challenging. Ejection fraction (EF) lacks sensitivity for early dysfunction, and the roles of strain and advanced imaging in systemic left ventricle (LV) physiology are not fully defined. We aimed to compare (i) LV and atrial strain indices between pediatric Fontan patients with preserved EF (P-LVEF) versus reduced EF (R-LVEF) and (ii) echocardiographic global longitudinal strain, segmental longitudinal strain indices, and conventional 2D and 3D echocardiographic parameters through cardiac morphology. Methods: Pediatric patients with Fontan circulation and systemic LV morphology underwent clinical, hemodynamic, and multimodality echocardiographic evaluation, including 2D/3D parameters, global and segmental LV strain, and left atrial strain. Outcomes were analyzed according to EF status and congenital morphology. Significant results from multiple comparisons were followed by post hoc analysis, where appropriate. Results: Patients with a reduced EF exhibited a worse clinical status, a higher pulmonary vascular resistance index, and greater systemic congestion compared with those with a preserved EF. Conventional 2D indices showed no significant differences between the two studied groups except for LV end-systolic volume (ESV) (p = 0.0315) and LV end-systolic longitudinal diameter (ESL) (p = 0.0024), which showed higher values in the R-LVEF group. Although the relative frequency of impaired deformation was higher in Fontan patients with an unbalanced atrioventricular canal compared with the Fontan patients with a tricuspid atresia + pulmonary stenosis + ventricular septal defect, the difference did not reach statistical significance (p = 0.1365). Most segmental longitudinal strain values were not significantly different across patients with different cardiac morphology, except for the basal anterior segment and apical inferoseptal segment (p < 0.05). Conclusions: In pediatric Fontan patients with systemic LV morphology, a reduced EF was associated with a worse clinical and hemodynamic status. Conventional echocardiographic indices showed a limited ability to differentiate between the compared groups. Although no statistically significant differences were detected between pediatric Fontan patients with preserved EF and reduced EF, LV and atrial strain indices provided complementary information on ventricular–atrial interactions and myocardial deformation. These findings are exploratory and warrant confirmation in larger, prospective studies. Full article