Search Results (95)

Myocardial hypertrophy (MH) represents a complex and heterogeneous condition in the pediatric and young adult population. While rare in children, MH encompasses a wide spectrum of physiological and pathological entities, ranging from transient hypertrophy in the infants of diabetic mothers to progressive genetic hypertrophic cardiomyopathies (HCM) with significant morbidity and mortality. Differential diagnosis is critical, as many phenocopies—including metabolic, mitochondrial, and syndromic diseases—can mimic HCM. Echocardiography remains the first-line imaging modality, with cardiac magnetic resonance (CMR) and molecular diagnostics increasingly used for detailed characterization. Risk stratification tools, such as the HCM Risk-Kids model, support clinical decision-making but must be integrated with individualized assessment. Advances in prenatal screening and genetic testing have significantly improved outcomes, though long-term management requires multidisciplinary care. Understanding age-specific presentations and the underlying etiologies is essential for accurate diagnosis and targeted treatment. This review provides a comprehensive overview of cardiac hypertrophy from fetal life through young adulthood, with a focus on etiologies, diagnostic approaches, imaging modalities, and therapeutic strategies, and aims to guide clinicians through the evolving landscape of MH, emphasizing early recognition, comprehensive evaluation, and personalized care. Full article

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. Full article

Background/Objectives: Elevated troponin levels are widely recognized as key biomarkers of myocardial injury and are frequently used in clinical decision making. However, not all instances of troponin elevation indicate true cardiac damage. In some cases, biochemical or immunological interferences may lead to false-positive results. These situations may lead to unnecessary diagnostic interventions and clinical uncertainty, ultimately impacting patient management negatively. This study aims to investigate the underlying mechanisms of false-positive troponin elevation in pediatric patients, focusing on factors such as macrotroponin formation, autoantibodies, and heterophile antibody interference. Methods: This retrospective study analyzed data from 13 pediatric patients who presented with elevated cardiac troponin levels between 2017 and 2024. Clinical evaluations included transthoracic echocardiography (TTE), electrocardiography (ECG), coronary computed tomography angiography (CTA), cardiac magnetic resonance imaging (MRI), and rheumatologic testing. Laboratory findings included measurements of cardiac troponins (cTnI and hs-cTnT) and pro-BNP levels. Results: Among 70 patients evaluated for elevated troponin levels, 13 (18.6%) were determined to have no identifiable cardiac etiology. The median age of these 13 patients was 13.0 years (range: 9–16), with 53.8% being female. The most common presenting complaints were chest pain (53.8%) and palpitations (30.8%). TTE findings were normal in 61.5% of the patients, and all patients had normal coronary CTA and cardiac MRI findings. Although initial troponin I levels were elevated in all cases, persistent positivity was observed up to 12 months. Median cTnI levels were 1.00 ng/mL (range: 0.33–7.19) at week 1 and 0.731 ng/mL (range: 0.175–4.56) at month 12. PEG precipitation testing identified macrotroponin in three patients (23.1%). No etiological explanation could be identified in 10 cases (76.9%), which were considered idiopathic. All patients had negative results for heterophile antibody and rheumatologic tests. Conclusions: When interpreting elevated troponin levels in children, biochemical interferences—especially macrotroponin—should not be overlooked. This study emphasizes the diagnostic uncertainty associated with non-cardiac troponin elevation. To better guide clinical practice and clarify false positivity rates, larger, multicenter prospective studies are needed. Full article

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder primarily affecting motor neurons. Emerging evidence suggests it also involves multiple organs, including potential cardiac manifestations. This study aimed to evaluate cardiac abnormalities in pediatric SMA patients compared to age-matched healthy controls, providing insight into underlying cardiomyopathy in this population. A total of 126 children were included in the study, with 63 SMA patients and 63 age-matched controls. We conducted clinical examinations, standard electrocardiography (ECG), and cardiac ultrasound (CUS) in all patients. Electrocardiographic analysis revealed a higher prevalence of sinus tachycardia in the SMA group and significantly deeper Q waves, indicating possible myocardial involvement. Echocardiographic findings demonstrated a significant reduction in left ventricular mass and left ventricular mass index in SMA patients compared to controls, despite normal systolic function. Statistical analysis confirmed that SMA diagnosis was an independent predictor of reduced myocardial mass, suggesting a distinct cardiac phenotype in SMA patients. This study provides new evidence of subclinical cardiac involvement in SMA, characterized by reduced myocardial mass, altered electrocardiographic parameters, and increased sinus tachycardia. These findings suggest a previously unrecognized form of cardiomyopathy in SMA that differs from cardiac manifestations typically seen in other neuromuscular disorders. Full article

Background: Tricuspid regurgitation (TR) is increasingly recognized as a detectable finding during routine fetal echocardiography. Although previous studies have explored its potential role as an indirect marker for congenital heart disease (CHD) in the first trimester, the prognostic significance of isolated mild TR in chromosomally normal and low-risk fetuses during the second and third trimesters remains unclear. Clarifying the clinical relevance of this commonly encountered Doppler finding is essential to guide appropriate prenatal management and avoid unnecessary interventions in low-risk pregnancies. Materials and Methods: This retrospective study reviewed fetal echocardiography reports of 1592 pregnant women referred to a pediatric cardiology clinic after the 20th gestational week between 1 January 2024 and 1 January 2025. Following exclusion criteria, 1072 low-risk pregnancies were included. A total of 136 fetuses with TR were identified, and among them, postnatal echocardiographic outcomes of 60 neonates who underwent transthoracic echocardiography within the first 10 days after birth were analyzed. Results: Among the 1072 low-risk pregnancies included in the study, a total of 136 fetuses were diagnosed with TR on fetal echocardiography. The majority of these cases were characterized as mild and isolated, without accompanying structural abnormalities. Postnatal echocardiographic assessments revealed no major congenital cardiac anomalies, reinforcing the interpretation that isolated mild TR in the context of low-risk pregnancies represents a benign and likely transient physiological finding. Conclusion: Isolated mild TR, particularly in low-risk and chromosomally normal pregnancies, appears to be a transient and clinically insignificant finding. These results support the interpretation of fetal TR in the context of overall clinical and structural evaluation, helping to avoid unnecessary interventions and reduce parental anxiety. Full article

Background/Objectives: Sudden unexpected death in epilepsy (SUDEP) is a major cause of mortality in pediatric epilepsy. Cardiac arrhythmias, possibly reflected by electrocardiographic (ECG) abnormalities, are thought to contribute significantly to SUDEP risk. This study aimed to evaluate ECG indices associated with an increased risk of both atrial and ventricular arrhythmias and sudden cardiac death in pediatric patients with generalized and focal seizures, excluding those with underlying channelopathies. Materials and Methods: Pediatric patients aged 0–18 years with generalized or focal epilepsy followed at our center between October 2024 and April 2025 were enrolled. Comprehensive cardiac evaluations, including echocardiography and 12-lead ECG, were conducted. Patients with channelopathies, structural heart defects, or significant congenital heart disease were excluded. ECG parameters—QT dispersion (QT Disp), corrected QT interval (QTc), QTc dispersion (QTc Disp), P-wave dispersion (P Disp), and T peak-T end interval (Tp-e)—were analyzed across epilepsy subgroups and compared to healthy controls. Effects of antiepileptic drug (AED) use and gender were also assessed. Results: A total of 151 participants were included (generalized: n = 51; focal: n = 50; controls: n = 50). QTc and Tp-e intervals were prolonged in both epilepsy groups compared to controls (p = 0.001 and p = 0.036, respectively), however, they fell within the conventional parameters. AED use was associated with further prolongation of QTc (p = 0.035) and Tp-e (p = 0.037), these metrics were similarly found to be within the established normative boundaries. Phenobarbital and lamotrigine users showed the longest QTc, albeit not statistically significant. Males with generalized seizures had longer maximum P-wave duration (P Max) than females (p = 0.009). A moderate correlation was found between Tp-e and QTc (r = 0.557, p = 0.001). Conclusions: Although there are findings in our study that may suggest a relationship between SUDEP and arrhythmia according to electrocardiographic markers associated with arrhythmia risk, larger and prospective studies with long-term follow-up are needed in the future. Full article

Enterovirus (EV) infections in neonates can be transmitted vertically or horizontally, with symptoms ranging from mild to severe, including myocarditis, meningoencephalitis, and hepatitis. Neonates with EV-induced myocarditis may present severe cardiovascular disease with sudden onset of arrhythmia. Neonatal arrhythmias, particularly in low birth weight or critically ill infants, can impair cardiac function and worsen outcomes. EV targets cardiomyocyte receptors, inducing apoptosis pathways and triggering cardiac conduction disturbances. We present an extremely low-birth-weight preterm infant (GW 27 + 6) who developed EV-induced myocarditis, complicated with a sudden onset of supraventricular tachycardia (SVT), pericardial effusion and bi-atrial enlargement. Despite multi-agent regimen, including propranolol, flecainide, and amiodarone, the infant showed persistent junctional rhythm until seven months of age, later transitioning to atrial rhythm with stable cardiac function. A review of previously published rhythm disturbances due to EV-induced myocarditis is presented. Newborns with EV-induced arrhythmia may require a multi-modal treatment such as a multi-agent medical regimen or, in severe non-responsive cases, an electrophysiological approach. EV infections may cause long-term cardiovascular comorbidities (such as left ventricular dysfunction or mitral valve regurgitation), necessitating continuous monitoring through echocardiography and ECG. Collaboration between neonatologists and pediatric cardiologists is crucial for effective treatment and follow-up. Full article

Introduction: Among aortic diseases in children, congenital defects such as coarctation of the aorta (CoA), interrupted aortic arch (IAA), hypoplastic aortic arch (HAA), and hypoplastic left heart syndrome (HLHS) predominate. Tissue patches are applied in pediatric cardiovascular surgery for the repair of congenital aortic defects as a filling material to replenish missing tissue or as a substitute material for the complete reconstruction of the vascular wall along the course of the vessel. This retrospective single-center study aimed to present the safety and feasibility of extracellular matrix (ECM) biological scaffolds in pediatric aortic surgery. Patients and methods: There were 26 patients (17 newborns and nine children), who underwent surgical procedures in the Department of Pediatric Cardiac Surgery (Poznań, Poland) between 2023 and 2024. The patients’ population was divided into two subgroups according to the hemodynamic nature of the primary diagnosis of the congenital heart defect and the performed pediatric cardiovascular surgery. The first group included 18 (72%) patients after aortic arch repair for interrupted aortic arch and/or hypoplastic aortic arch, while the second group included seven (28%) patients after aortopulmonary anastomosis. In the first group, patches were used to reconstruct the aortic arch by forming an artificial arch with three separate patches sewn together, primarily addressing the hypoplastic or interrupted segments. In the second group, patches were applied to augment the anastomosis site between the pulmonary trunk and the aortic arch, specifically at the connection points in procedures, such as the Damus–Kaye–Stansel or Norwood procedures. The analysis was based on data acquired from the national cardiac surgery registry. Results: The overall mortality in the presented group was 15%. All procedures were performed using median sternotomy with a cardiopulmonary bypass. The cardiopulmonary bypass (CPB) and aortic cross-clamp (AoX) median times were 144 (107–176) and 53 (33–79) min, respectively. There were two (8%) cases performed in deep hypothermic circulatory arrest (DHCA). The median postoperative stay in the intensive care unit (ICU) was 284 (208–542) h. The median mechanical ventilation time was 226 (103–344) h, including 31% requiring prolonged mechanical ventilation support. Postoperative acute kidney failure requiring hemodiafiltration (HDF) was noticed in 12% of cases. Follow-up data, collected via routine transthoracic echocardiography (TTE) and clinical assessments over a median of 418 (242.3–596.3) days, showed no evidence of patch-related complications such as restenosis, aneurysmal dilation, or calcification in surviving patients. One patient required reintervention on the same day due to a significantly narrow ascending aorta, unrelated to patch failure. No histological data from explanted patches were available, as no patches were removed during the study period. The median (Q1–Q3) hospitalization time was 21 (16–43) days. Conclusions: ProxiCor^® biological patches derived from the extracellular matrix can be safely used in pediatric patients with congenital aortic arch disease. Long-term follow-up is necessary to confirm the durability and growth potential of these patches, particularly regarding their resistance to calcification and dilation. Full article

Background/Objectives: Activation of the immune system and subclinical inflammation participate in the pathogenesis of primary hypertension (PH) and the formation of hypertension-mediated organ damage. Our study aimed to investigate the relationship between subclinical inflammation and left ventricular hypertrophy (LVH) in pediatric patients with PH. Methods: In 34 untreated children with PH (15.1 ± 2.1 years, 28 boys, 6 girls), we investigated markers of subclinical inflammation (high-sensitivity CRP, interleukin 18, and complete blood count-derived indices), parameters of the left ventricle from 2D-echocardiography, office and ambulatory blood pressure, and selected clinical and biochemical parameters. Results: LVH was revealed in 12 (35.3%) patients, and abnormal relative wall thickness (RWT) was found in 6 (17.6%) children. Left ventricular inner dimension at end diastole (LVEDd) Z-score correlated negatively with neutrophils (r = −0.583, p = 0.001), neutrophil-to-lymphocyte ratio (NLR) (r = −0.562, p = 0.002), and positively with monocyte-to-neutrophil ratio (MNR) (r = 0.605, p = 0.001) and left ventricular mass (LVM) for lean body mass Z-score, while LVMI [g/m²] correlated positively with MNR (r = 0.495, p = 0.005 and r = 0.433, p = 0.011). RWT correlated positively with neutrophil count (r = 0.356, p = 0.039 and r = 0.347 p = 0.044) and with monocyte count (r = 0.378, p = 0.027 and r = 0.365, p = 0.034). Patients with LVH had significantly lower NLR (1.430 ± 0.409 vs. 1.797 ± 0.521, p = 0.043) and higher MNR ratios (0.171 ± 0.031 vs. 0.144 ± 0.037, p = 0.042). The receiver operating characteristic analysis demonstrated good diagnostic profiles for mean platelet volume (MPV), NLR, and MNR as predictors of LVH. In multivariate analysis, MNR was the only significant predictor of LVH (OR: 1.329, 95CI: 1.007–1.756). Conclusions: Monocyte-to-neutrophil ratio may be an easily accessible marker of left ventricular hypertrophy in children with primary hypertension. Full article

Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between a pulmonary artery and pulmonary vein that bypass the capillary bed, resulting in right-to-left shunting. The majority of PAVMs are associated with hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease. Asymptomatic children with either a confirmed diagnosis of HHT or who are at risk of HHT from positive family history, as well as those with signs or symptoms concerning for HHT and/or PAVMs, should undergo screening for PAVMs at the time of clinical presentation or diagnosis. Screening in children can use a conservative approach (pulse oximetry, exercise intolerance testing, and chest radiograph) or transthoracic contrast echocardiography with agitated saline (TTCE). Pediatric patients with large or physiologically significant PAVMs should be treated with transcatheter embolization. Close follow-up is required after treatment to evaluate for interval growth of other PAVMs or reperfusion of the treated PAVMs. Full article

Objective: To evaluate early and midterm outcomes of cryopreserved aortic homograft implantation in pediatric patients undergoing aortic valve and root replacement. Methods: A retrospective analysis was conducted on 36 pediatric patients aged 2 to 7 years who underwent cryopreserved aortic homograft implantation between January 2016 and December 2024. Indications included complex congenital aortic valve disease, annular hypoplasia, failed Ross procedure, and infective endocarditis. The standard root replacement technique was used under moderate hypothermic cardiopulmonary bypass. Postoperative outcomes were analyzed, including early complications, mortality, echocardiographic parameters, and long-term graft performance. Statistical analyses included the use of chi-square test, the Mann–Whitney U test, and Spearman correlation. Results: There was no 30-day mortality. One patient (2.8%) experienced late mortality at year 3, and two patients (5.6%) underwent reoperation at years 4 and 7 due to root aneurysm and severe regurgitation, respectively. Early postoperative echocardiography showed satisfactory hemodynamic performance with a mean gradient of 8.4 ± 3.2 mmHg. At 5-year follow-up, 92.9% of grafts maintained normal function. Conclusions: Cryopreserved homografts provide a safe and effective option for pediatric aortic valve replacement in the early and midterm period. However, potential late complications such as structural degeneration or root dilation necessitate long-term surveillance. Advances in decellularized grafts may improve future durability and integration. Full article

Background: Calmodulin is a calcium-signaling protein implicated in cardiac remodeling and could be released extracellularly. It was previously identified as differentially expressed in hypertensive pediatric chronic kidney disease (CKD). This study assessed plasma calmodulin as a cardiovascular disease (CVD) biomarker in pediatric CKD and compared it with traditional risk markers. Methods: We conducted a cross-sectional study of 81 children with CKD aged 3–18 years. All underwent clinical assessments and echocardiography; 44 had carotid ultrasound, and 38 completed ambulatory blood pressure monitoring (ABPM). Results: Most participants had preserved renal function (median eGFR, 104.4 mL/min/1.73 m²). Plasma calmodulin levels were significantly associated with early markers of CVD, including interventricular septal thickness, left ventricular mass, carotid intima–media thickness, and ABPM systolic measures (all r > 0.2; p < 0.05). In multivariable analysis, only calmodulin and office systolic blood pressure (BP) independently predicted abnormal BP profiles. Conclusions: Plasma calmodulin may serve as a sensitive, though non-specific, early CVD biomarker in pediatric CKD and could complement conventional screening tools. Full article