Search Results (171)

Juvenile idiopathic arthritis (JIA) is the most prevalent chronic rheumatologic condition in childhood, with an incidence that continues to rise worldwide. Despite substantial progress in therapeutic strategies over the past two decades, JIA remains a major health concern. Beyond joint inflammation and musculoskeletal impairment, accumulating evidence indicates that JIA is associated with metabolic disturbances and altered body composition, which may predispose affected children to an elevated cardiovascular risk in the long term. The objective of this review is to synthesize current knowledge on these metabolic and anthropometric alterations and to evaluate the role of non-invasive diagnostic methods in detecting early cardiovascular changes. A narrative review of the literature was conducted using PubMed and Scopus databases, focusing on studies assessing lipid metabolism, insulin resistance, adiposity, and cardiovascular markers in pediatric patients with JIA. Special attention was given to non-invasive diagnostic approaches, including bioelectrical impedance analysis (BIA), dual-energy X-ray absorptiometry (DXA), skinfold thickness, transient elastography, carotid intima–media thickness (cIMT), as well as selected biochemical markers. Evidence suggests that children with JIA frequently present with dyslipidemia, increased insulin resistance, and abnormal body fat distribution compared with their healthy peers. Non-invasive assessment methods, particularly DXA and cIMT, have demonstrated sensitivity in detecting subclinical metabolic and vascular changes. These alterations resemble early features of metabolic syndrome and are thought to contribute to premature cardiovascular morbidity in this population. Incorporating non-invasive cardiovascular risk assessment into routine rheumatology practice may improve early detection of metabolic and vascular complications in JIA, support timely preventive interventions, and ultimately enhance long-term outcomes for affected children. Most available evidence is derived from cross-sectional studies, highlighting the need for longitudinal investigations to better define long-term cardiometabolic risk in JIA. Full article

Background and Clinical Significance: Classic infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease, manifesting within the first months of life with hypertrophic cardiomyopathy and severe hypotonia. Avalglucosidase alfa is a next-generation recombinant human α-glucosidase that was recently approved for use. Clinical trials, conducted on IOPD patients already treated with alglucosidase alfa, have recommended a dosage ranging from 20 to 40 mg/kg every other week. The optimal dosage for treatment-naïve patients has not yet been established. We present a case of a severe IOPD patient who received a short-term high-dose, high-frequency regimen of avalglucosidase alfa (40 mg/kg/week). Case Presentation: The patient, a 3-month-old infant, presented with hypotonia and severe hypertrophic cardiomyopathy (left ventricular mass index (LVMI) of 136 g/m²; ejection fraction (EF) of 60%). Treatment with avalglucosidase alfa was initiated at a dose of 40 mg/kg every other week. After two weeks, cardiac function further deteriorated (LVMI of 168 g/m²; EF of 46%), so the treatment was intensified to a dose of 40 mg/kg weekly for two months. This resulted in significant clinical, biochemical, and motor improvements without adverse reactions. Following this improvement, the dosage of 40 mg/kg every other week was reinstated. At 18 months of age, the patient demonstrated normal motor development, normal cardiac function (LVMI of 49 g/m²; EF of 68%), and normal biomarkers. Conclusions: Although limited to a single patient, this case illustrates that short-term high-dose, high-frequency administration of avalglucosidase alfa could be both effective and safe, even in patients with severe, late-diagnosed IOPD. Full article

Individuals born after intrauterine growth restriction (IUGR) are at increased risk of long-term cardiovascular complications, including elevated blood pressure, endothelial dysfunction, and arterial stiffness. Endothelial progenitor cells (EPCs), particularly endothelial colony-forming cells (ECFCs), play a critical role in maintaining vascular homeostasis. Previously, Simoncini et al. observed that in a rat model of IUGR, six-month-old males exhibited elevated systolic blood pressure (SBP) and microvascular rarefaction compared with control (CTRL) rats. These vascular alterations were accompanied by reduced numbers and impaired function of bone marrow-derived ECFCs, which were associated with oxidative stress and stress-induced premature senescence (SIPS). In contrast, IUGR females of the same age and from the same litter did not exhibit higher SBP or microvascular rarefaction, raising the question of whether ECFC dysfunction in IUGR female rats can be present without vascular alterations. So, we investigated ECFCs isolated from six-month-old female IUGR offspring (maternal 9% casein diet) and CTRL females (23% casein diet). To complete the vascular assessment, we performed in vivo and in vitro investigations. No alteration in pulse wave velocity (measured by echo-Doppler) was observed; however, IUGR females showed decreased aortic collagen and increased elastin content compared with CTRL. Regarding ECFCs, those from IUGR females maintained their endothelial identity (CD31⁺/CD146⁺ ratio among viable CD45⁻ cells) but exhibited slight alterations in progenitor marker expression (CD34) compared with those of CTRL females. Functionally, IUGR-ECFCs displayed a delayed proliferation phase between 6 and 24 h, while their ability to form capillary-like structures remained unchanged, however their capacity to form capillary-like structures was preserved. Regarding the nitric oxide (NO) pathway, a biologically relevant trend toward reduced NO levels and decreased endothelial nitric oxide synthase expression was observed, whereas oxidative stress and SIPS markers remained unchanged. Overall, these findings indicate that ECFCs from six-month-old female IUGR rats exhibit only minor functional alterations, which may contribute to vascular protection against increase SBP, microvascular rarefaction, and arterial stiffness. Full article

Background: Transition from paediatric to adult care in congenital heart disease (CHD) represents a pivotal and vulnerable phase that critically influences long-term survival, morbidity, and quality of life. Advances in paediatric cardiology and surgery have generated a rapidly growing population of adults with congenital heart disease who exhibit complex, lifelong, and multidisciplinary needs. However, survival does not equate to cure, and discontinuity of care during adolescence remains a major predictor of adverse outcomes. Despite widespread recognition of their importance, transition programmes are heterogeneous worldwide, and standardised, evidence-based protocols are missing. Objective: This review calls for action acknowledging the urgent need for structured and standardised transition programmes in CHD care, integrating the key elements that should be addressed in any programme to optimise outcomes. Content: Transition should be understood as a multidisciplinary, longitudinal process integrating medical management, patient and family education, psychological preparation, and societal inclusion. Core domains include tailored physical activity, nutritional counselling, cardiovascular risk factor management, infective endocarditis prevention, reproductive health, psychosocial support, and engagement of primary care providers, educators, and employers. Evidence demonstrates that structured transition programmes enhance health literacy, adherence, and self-management, while reducing loss to follow-up. The active involvement of primary care providers, psychologists, educators, and employers is essential to sustain holistic and equitable care. Conclusions: Transition should be reframed as an essential, lifelong component of CHD care. The development and implementation of standardised, multidisciplinary, evidence-based transition protocols are urgently required to ensure continuity, empower patients, and optimise long-term clinical and psychosocial outcomes for adults with CHD. Full article

Background/Objectives: Data on the long-term outcomes of hypoplastic left heart syndrome (HLHS) patients compared to other single-ventricle patients reaching adolescence after Fontan surgery is limited. This study analyzes the outcomes of HLHS patients compared to non-HLHS patients following total cavopulmonary connection (TCPC) from the same era at a large single center. Methods: This study included patients aged ≥ 12 years at the last follow-up who underwent TCPC surgery between 05/2001 and 12/2009, with follow-up data available from 05/2012 to 01/2024. The primary endpoint (Fontan-specific major adverse cardiovascular events, MACEs) included all-cause death, cardiac transplantation or listing, heart failure hospitalizations, ventricular arrhythmias, third-degree AV block, or resuscitation. Results: A total of 130 patients were included, with 39 (30.0%) having HLHS. Among non-HLHS patients, 18 (13.8%) had a systemic right ventricle, and 73 (56.2%) had a systemic left ventricle. The mean age at the last follow-up was 18.6 ± 3.2 years, with no significant age difference between groups (p = 0.195). HLHS patients experienced significantly more MACEs (p = 0.019), had reduced ventricular function (p = 0.009), and exhibited higher NT-proBNP levels (p = 0.004) compared to non-HLHS patients. Conclusions: While long-term outcomes for adolescents with TCPC are generally encouraging, HLHS patients are at higher risk of adverse cardiovascular events. These findings highlight the need for targeted follow-up and interventions to improve long-term prognosis in this high-risk group. Full article

Body Surface Area (BSA) and Total Body Surface Area (TBSA) are important indicators used in different domains of medicine, playing a crucial role in oncology, toxicology, and even transplantology or cardiology. Their main (although not sole) use in medicine is to dose medications according to the patient’s BSA/TBSA. Other fields where BSA is commonly employed include the treatment of burns—the fluid doses are according to Parkland’s rule, which is based on BSA estimation. Thus, a proper estimation of BSA value directly influences the patient’s chances of survival—one can easily imagine the consequences of not administering enough fluids in the critical phase of a burned patient’s management. In medical practice, even small deviations in the estimated BSA value may have a significant impact on the patient’s treatment process and, in extreme cases, lead to their death. This problem is particularly important in the treatment of children and adolescents. The aim of our article is to present the most popular formulae used to estimate the BSA value for children in the case of minors and to discuss discrepancies between them. In the case of a 4-week-old neonate, the smallest difference in maximum BSA calculation discrepancies amounts up to 0.22 m², which corresponds to roughly 80% of the typical BSA value for this age group, while for 12-year-old patients this parameter is 0.15 m², equalling about 11% of the standard BSA value for this age category. The maximum deviation between the patterns reaches 0.28 m² for 4-week-olds and over 0.75 m² for 12-year-old children. These notable discrepancies in BSA calculations highlight the necessity for more precise and dependable methods, particularly when dealing with paediatric patients. Full article

Background: Advances in diagnosis and treatment have led to a growing population of adults with congenital heart disease (ACHD). Despite increasing life expectancy, their clinical needs—especially in older age—remain poorly defined. Cardiac and non-cardiac comorbidities are prevalent, and emerging evidence suggests accelerated biological aging compared to the general population. However, data on older patients and geriatric patients with CHD are limited. Objectives: This study aimed to characterize patients with CHD aged ≥50 years, focusing on functional status, comorbidities, sex-specific differences, and therapeutic patterns. Methods: The PATHFINDER-CHD Registry is a prospective, observational, multicenter registry enrolling patients with CHD with manifest heart failure (HF), HF history, or high HF risk. Data include anatomy, prior treatments, comorbidities, and medication use. Results: Among 1935 patients, 297 were ≥50 years old. Most had acyanotic CHD (62%); Tetralogy of Fallot (21%) was the most frequent diagnosis. A morphologic right systemic ventricle was present in 12%, and 5% had univentricular hearts. HF was manifest in 21%; 44% were classified as ACC/AHA stage B, 51% as stage C, yet 77% were in Perloff class I/II. Common cardiovascular comorbidities included aortopathy (55%), hypertension (37%), and arrhythmia (33%). Non-cardiac comorbidities included thyroid dysfunction (25%), renal impairment (18%), and neurological disease (13%). Sex-specific differences were observed. Despite HF burden, SGLT2 inhibitors and ARNIs were used in only 17% and 8.4%, respectively. Conclusions: Older patients with CHD represent a clinically complex cohort with high comorbidity burden. The findings support the concept of accelerated aging and emphasize the need for tailored interdisciplinary care strategies. Full article

A 9-year-old boy presented with edema of the left cheek. He was diagnosed with a large aneurysmal bone cyst of the mandibular bone. Off-label treatment with denosumab for 17 months resulted in a significant reduction in the lesion. Five months after discontinuing denosumab, the patient developed severe rebound hypercalcemia and acute kidney injury, which resolved with corticosteroids. Two years after treatment discontinuation, the lesion continues to decrease in size. This case highlights the efficacy of denosumab as an off-label treatment for aneurysmal bone cysts, though it can be associated with hypercalcemia and acute kidney injury. We conclude that the use of denosumab should be considered on a case-by-case basis, with regular monitoring for side effects. Full article

Background: Acute myocarditis is defined as an inflammatory process consisting of multiple complex physiopathological processes. Due to its variability, the management of this condition has been a topic of debate. Our study aimed to evaluate the efficacy and safety of intravenous immunoglobulin (IVIg). Methods: We retrospectively collected data from patients admitted to a paediatric cardiology department from 2015 to 2020. Following the inclusion and exclusion criteria, a total of 68 patients diagnosed with acute myocarditis were selected and divided into two groups: treated with IVIg and untreated. We determined clinical and paraclinical parameters, such as symptom remission, normalisation of the ejection fraction at discharge, and cardiac marker evolution. Mixed-design analysis of variance and McNemar tests were performed to determine the statistical differences between groups. Results: In the treated group, 88.2% of the patients developed symptom remission at discharge vs. 50% in the untreated group, and 61.8% of the treated patients presented normalisation of the ejection fraction (EF) vs. 8.8% in the untreated group (p < 0.05). The evolution of cardiac markers did not statistically differ between the treated and untreated groups. Regarding safety, three treated patients presented mild, temporary side effects. Conclusions: Having found a statistically significant improvement in symptomatology and left ventricular EF, our study suggests the efficacy of IVIg in the treatment of acute myocarditis. Treatment with immunoglobulins was relatively safe, with only mild adverse reactions (fever and mild chest pain). Full article

Chemotherapy-induced cardiotoxicity (CIC) represents a major long-term complication in paediatric oncology patients, with conventional cardioprotective agents providing only limited efficacy. As survival rates improve, preserving cardiac function has become essential for ensuring quality of life in childhood cancer survivors (CCS). A multi-modal approach combining pharmacological agents, gene- and RNA-based technologies, cell therapies, and immune modulation holds great potential for long-term cardiac preservation. As paediatric-specific research advances, successful integration of these emerging strategies into standard care will require multidisciplinary collaboration, long-term monitoring, and ethical safeguards tailored to children. This narrative review aims to provide a comprehensive overview of both established and novel strategies for preventing or reducing CIC in paediatric cancer patients, critically examining recent progress, assessing their efficacy and safety, and outlining key priorities for future research and clinical application. Full article

Background: Multisystem inflammatory syndrome in children (MIS-C) is a severe post-infectious complication of SARS-CoV-2, often with cardiac involvement. Myocardial strain imaging may detect dysfunction missed by conventional echocardiography. The objectives of this study are to characterize cardiac manifestations of MIS-C and assess the value of strain imaging in children with preserved and reduced left ventricular ejection fraction (LV-EF). Methods: We retrospectively analyzed 22 MIS-C patients admitted between September 2020 and January 2024, all with cardiac involvement. Clinical, laboratory, and echocardiographic data—including 2D and speckle-tracking strain—were collected at the day of worst dysfunction (DWD) and discharge (DD) and compared with 22 matched controls. Results: Median age was 4.65 years; 59% male; 45% overweight/obese. LV systolic dysfunction (LV-EF < 50%) occurred in 54.5%, coronary abnormalities in 36.4%, and pericardial effusion in 95.5%. LV global longitudinal strain (LVGLS) was significantly lower than controls at the DWD (−15.45 ± 4.76%, p < 0.0001) and DD (−20.63 ± 4.66%, p = 0.014). Strain abnormalities persisted despite LV-EF recovery, and even patients with preserved LV-EF showed significant segmental strain reduction. LVGLS and apical infero-septal strain were strongest predictors of reduced LV-EF. Conclusions: MIS-C often causes systolic dysfunction and coronary changes, but strain imaging reveals persistent subclinical myocardial injury. Long-term cardiac monitoring is warranted. Full article

Hypoplastic Left Heart Syndrome (HLHS) accounts for 2–3% of congenital heart diseases (CHDs). HLHS is characterized by reduced systemic blood flow due to hypoplastic left ventricle (LV) and underdeveloped left-sided cardiac structures. Without a series of staged interventional treatments, HLHS is often fatal, typically within the first hours or days of life. This manuscript aims to provide a comprehensive overview of the role of echocardiography, cardiovascular magnetic resonance (CMR), and cardiac computed tomography angiography (CCTA) in the optimal management of patients with HLHS. Specifically, it explores the contributions of various non-invasive imaging modalities to the diagnosis, planning of staged palliative interventions, interstage monitoring, and long-term follow-up of HLHS. Furthermore, the advantages and limitations of each imaging technique will be highlighted to aid in clinical decision-making; however, it is important to note that, at present, no universal guidelines exist, and imaging strategies remain largely dependent on individual centre expertise and protocols. Full article

Survival rates for childhood cancer patients (CCSs) have increased due to new treatments. Cardiovascular disease (CVD) is the leading cause of non-cancer morbidity and mortality in CCSs. CVD is the result of direct cardiovascular (CV) damage caused by cancer treatment and accelerated atherosclerosis. CCSs are at increased risk of metabolic syndrome, yet CV risk factors are underdiagnosed and undertreated in this population. A structured transition care plan plays a key role in promoting greater awareness of the importance of appropriate CV risk management and a healthy lifestyle. This narrative review aims to provide a comprehensive illustration of how transition programs face many barriers in daily practice and the need for a widespread transition culture. Full article

Background: The integration of global longitudinal strain (GLS) with stress echocardiography (SE) represents a significant advancement in non-invasive cardiac diagnostics, particularly in the evaluation of coronary artery disease (CAD). GLS, derived from speckle-tracking echocardiography, quantifies myocardial deformation and offers superior sensitivity for detecting subclinical myocardial dysfunction compared to conventional metrics like wall motion and ejection fraction. Recent studies have validated the prognostic and diagnostic efficacy of GLS both at rest and during stress, notably enhancing the detection of obstructive and non-obstructive CAD, microvascular dysfunction, and other cardiac pathologies. Methods: This manuscript synthesizes extensive clinical data demonstrating the added value of GLS during stress echocardiography across diverse cardiac conditions—including valvular heart disease, heart failure, cardio-oncology, and pediatric cardiology. Novel metrics like longitudinal strain reserve (LSR), myocardial work indices, and post-systolic strain have further enriched risk stratification strategies. Results: The combination of GLS with SE has been shown to approximate the accuracy of invasive coronary angiography in intermediate-risk patients and in cases with equivocal traditional SE findings. Despite its clinical promise, the utility of GLS is challenged by technical limitations, including image quality dependency, inter-vendor variability, and limited applicability during high heart rate states. Conclusions: As technological refinement and standardization progress, GLS integrated with SE is poised to become a mainstay in precision cardiology, improving diagnostic yield, guiding therapeutic decisions, and enhancing patient outcomes. Full article