Journal of Clinical Medicine

Research

18 pages, 2450 KB

Open AccessArticle

Long-Term Coronary Outcomes and Follow-Up After Kawasaki Disease: Insights from a 25-Year Follow-Up Cohort

by Antonio Musolino, Alessandra Marchesi, Giovanni Antonelli, Livia Gargiullo, Flavio Storelli, Giovanni Orso, Benedetta Benelli, Marta Ventura, Ludovica Ariaudo, Giulia Cafiero, Giulio Calcagni, Benedetta Leonardi, Michele Lioncino, Aurelio Secinaro, Riccardo Babini and Alberto Villani

J. Clin. Med. 2026, 15(16), 6155; https://doi.org/10.3390/jcm15166155 - 7 Aug 2026

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Abstract

Introduction: Kawasaki disease (KD) is an acute systemic vasculitis and the leading cause of acquired pediatric heart disease in high-income countries. Coronary artery aneurysms (CAA) represent the most severe complication and drive long-term cardiovascular risk. Despite improved outcomes with early intravenous immunoglobulin therapy, [...] Read more.

Introduction: Kawasaki disease (KD) is an acute systemic vasculitis and the leading cause of acquired pediatric heart disease in high-income countries. Coronary artery aneurysms (CAA) represent the most severe complication and drive long-term cardiovascular risk. Despite improved outcomes with early intravenous immunoglobulin therapy, follow-up strategies remain heterogeneous, particularly for patients showing CAA regression. Dynamic risk stratification based on coronary Z-scores has been proposed, but long-term real-world data are still needed to optimize surveillance. Methods: We conducted a single-center, retrospective study including pediatric patients (age 1 month–18 years) with KD complicated by CAA, followed at Bambino Gesù Children’s Hospital (Rome) between 1999 and 2024. Coronary involvement was assessed using Boston Z-scores of the right coronary artery, left main coronary artery, and left anterior descending artery. CAA severity over time was analyzed using a composite MAX SCORE (highest Z-score among coronary branches) along with the 1-YEAR MAX SCORE (highest MAX SCORE reached within the 1 year of disease). The distribution and timing of cardiac computed tomography angiography (CCTA) and exercise stress testing (EST) during follow-up were analyzed in relation to coronary severity. Results: Among 502 KD patients, 122 (24.3%) developed CAA; 113 were included in the analysis. Mean age at diagnosis was 24.6 months (M/F 3.5:1). Multivessel involvement was observed in 72%, most frequently affecting the left anterior descending artery. Long-term follow-up ≥10 years was available for 31.9% of patients. Most changes in coronary severity occurred within the first year after disease onset, with complete CAA regression in 76.1% of patients. Conversely, 53% of patients affected by giant aneurysms at 12 months showed persistent severe disease at last follow-up. EST (164 tests in 40 patients) was almost universally negative for inducible ischemia (163/164), whereas CCTA (47 exams in 35 patients) was preferentially performed early and in higher-risk patients. Test prescription correlated more closely with 1-YEAR MAX SCORE than with contemporaneous severity. Echocardiography showed systematic differences compared with CCTA for right coronary and left anterior descending artery Z-scores. Discussion: In our experience, early coronary status was closely associated with the intensity of long-term surveillance strategies in KD. The 1-YEAR MAX SCORE was associated with subsequent patterns of coronary evolution, and the continuous 1-year Maximum Z-score showed good discriminatory ability for persistent CAA on ROC analysis, pending external validation. While the low rate of positive findings on EST raises questions about its diagnostic yield in real-world practice, CCTA provided detailed anatomical characterization. Overall, these findings suggest that early coronary severity may help inform individualized, severity-driven follow-up strategies, warranting confirmation in prospective multicenter studies. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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13 pages, 735 KB

Open AccessArticle

Extracellular Matrix Tissue Patch for Septal Defect Repair in Pediatric Cardiac Surgery: A Single-Center Experience

by Marcin Gładki, Paweł R. Bednarek, Anita Węclewska, Tomasz Urbanowicz, Anna Olasińska-Wiśniewska, Bartłomiej Kociński, Jowita Rosada-Kurasińska and Marek Jemielity

J. Clin. Med. 2026, 15(14), 5744; https://doi.org/10.3390/jcm15145744 - 22 Jul 2026

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Abstract

Background: Decellularized extracellular matrix (ECM) patches have emerged as a potential alternative to synthetic and autologous materials in pediatric cardiac surgery; however, clinical data on their use in septal defect repair remain limited. Methods: This single-center retrospective study evaluated the applicability and early [...] Read more.

Background: Decellularized extracellular matrix (ECM) patches have emerged as a potential alternative to synthetic and autologous materials in pediatric cardiac surgery; however, clinical data on their use in septal defect repair remain limited. Methods: This single-center retrospective study evaluated the applicability and early outcomes of ECM scaffolds for pediatric septal defect repair using data from the national cardiac surgery registry. Early postoperative outcomes and perioperative variables were analyzed. Results: The study included 72 procedures performed in 68 patients (35 males and 33 females), aged 10 days to 16 years (median age: 187 days; IQR: 105–327 days). Reoperations accounted for 6% of cases. Postoperative complications occurred in 1.4% of patients, and continuous renal replacement therapy was required in 6 (8.8%) patients. Overall mortality was 2.9% (2/68 patients). No statistically significant differences were observed between atrial and ventricular septal defect groups. Conclusions: ECM patches appeared to be a safe and effective option for septal defect repair in pediatric cardiac surgery, demonstrating low complication rates and satisfactory early outcomes across different types of congenital heart defects. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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12 pages, 2085 KB

Open AccessArticle

A Pilot Feasibility Study of Neurodevelopmental Surveillance After the Fontan Operation Using a Sedation-Free Brain MRI Approach

by Kwang Ho Choi, Hye Jin Baek, Hyungtae Kim, Si-Chan Sung, Joung-Hee Byun, Hoon Ko, Hyoung-Doo Lee, Ra Yu Yun, Jun-Ho Kim and Stefan Skare

J. Clin. Med. 2026, 15(8), 3069; https://doi.org/10.3390/jcm15083069 - 17 Apr 2026

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Abstract

Background and Objectives: After undergoing a Fontan operation, children with single-ventricle physiology are at a risk of neurodevelopmental impairment; data from the Korean population are scarce. We characterized the neurocognitive profiles of early school-aged Fontan patients and evaluated the feasibility of a sedation-free [...] Read more.

Background and Objectives: After undergoing a Fontan operation, children with single-ventricle physiology are at a risk of neurodevelopmental impairment; data from the Korean population are scarce. We characterized the neurocognitive profiles of early school-aged Fontan patients and evaluated the feasibility of a sedation-free ultrafast brain magnetic resonance imaging (MRI) protocol for volumetric analysis. Methods: This prospective study screened 25 children who had undergone Fontan surgery and were in grades 1–3 (8–11 years of age) in 2023. After excluding children with a history of seizure, epilepsy, or brain infarction, 11 participants underwent standardized neurocognitive evaluation. Among them, four with extreme full-scale intelligence quotient (FSIQ) underwent 3T sedation-free ultrafast brain MRI (total scan time, 3 min 22 s), including volumetry-capable three-dimensional T1-weighted imaging. Six age-matched children served as controls. MRI volumetric analysis was exploratory and limited to a small subset of Fontan participants (n = 4), restricting statistical power and generalizability. Between-group comparisons were performed using Welch’s t-test, with Hedges’ g calculated as the effect size. Results: Mean FSIQ was 85.2 ± 24.3, with 36% patients with <85 FSIQ. Working memory (64%) and processing speed (55%) were most frequently impaired. Cerebellar volumes were lower in Fontan patients than in controls, although these differences were not statistically significant (left: 59.74 ± 8.86 vs. 72.26 ± 6.92 mL; right: 60.63 ± 7.70 vs. 71.54 ± 7.01 mL; very large effect sizes). Hippocampal volumes tended to be lower, and cerebellar volume showed a positive but non-significant correlation with processing speed. White matter hyperintensities and microbleeds were observed in two patients, both with impaired processing speed. Conclusions: School-aged Fontan patients exhibited selective deficits in working memory and processing speed, while exploratory MRI analysis suggested lower cerebellar volumes in the Fontan group. The ultrafast sedation-free MRI protocol proved feasible for volumetric assessment and, when combined with neurocognitive assessments, may support future milestone-based surveillance and early intervention for at-risk children. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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12 pages, 1303 KB

Open AccessArticle

Sinus Rhythm Propagation and Low-Voltage Bridge in Koch’s Triangle: How They Relate in Cryoablation of Atrioventricular Nodal Reentry Tachycardia in Children

by Francesco Flore, Michele Lioncino, Pietro Paolo Tamborrino, Ilaria Cazzoli, Alberto Ferraro, Vincenzo Pazzano, Daniele Garozzo, Cristina Raimondo, Massimo Stefano Silvetti and Fabrizio Drago

J. Clin. Med. 2026, 15(8), 3058; https://doi.org/10.3390/jcm15083058 - 16 Apr 2026

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Abstract

Background/Objectives: Transcatheter ablation assisted by three-dimensional (3D) electroanatomical mapping (EAM) is the elective treatment for atrioventricular nodal reentrant tachycardia (AVNRT) in children and adolescents. In this population of patients, the most frequently employed EAM strategies are the low-voltage bridge (LVB) strategy and [...] Read more.

Background/Objectives: Transcatheter ablation assisted by three-dimensional (3D) electroanatomical mapping (EAM) is the elective treatment for atrioventricular nodal reentrant tachycardia (AVNRT) in children and adolescents. In this population of patients, the most frequently employed EAM strategies are the low-voltage bridge (LVB) strategy and sinus rhythm propagation mapping (SRPM). However, the exact pathophysiology and anatomy of the AVNRT reentrant circuits are still poorly understood. The aim of this study was to investigate the relationship between SRPM and LVB and to shed light on nodal physiology in children and adolescents affected by AVNRT. Methods: We retrospectively collected data on pediatric patients who underwent cryoablation for AVNRT assisted by high-density 3D EAM by using the LVB strategy; maps were reviewed by two independent electrophysiologists and the SRPM was described. SRPM was defined as typical when only one collision area was identified and atypical whenever either no or ≥ two collision areas were localized. Results: Twenty-eight consecutive patients (11.3 ± 3.3 years) were enrolled. All procedures were acutely successful. Overall, atypical SRPM was present in 10 patients (35.7%), and it did not correlate with the presence of multiple SPs or electrophysiological data. Moreover, we observed an imperfect concordance between SRPM and LVB (only in 10/18 patients). When SRPM and LVB were assessed in different locations, the LVB identified the effective cryoablation site in more cases than SRPM (4/8 vs. 1/8). Lastly, in cases of double collision, one collision area co-localized with the LVB and the effective cryoablation spot, whereas the other was located superiorly, closer to the His bundle. Conclusions: Atypical sinus rhythm propagation in the Koch’s triangle is a frequent finding in pediatric AVNRT patients. In this series, LVB showed closer concordance with the successful cryolesion site than retrospectively reconstructed SRPM. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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15 pages, 379 KB

Open AccessArticle

Extracellular Matrix Tissue Patch for Pulmonary Artery Repair in Pediatric Cardiac Surgery: A Single-Center Experience

by Marcin Gładki, Paweł R. Bednarek, Anita Węclewska, Tomasz Urbanowicz, Anna Olasińska-Wiśniewska and Marek Jemielity

J. Clin. Med. 2026, 15(3), 1177; https://doi.org/10.3390/jcm15031177 - 3 Feb 2026

Cited by 1 | Viewed by 720

Abstract

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 [...] Read more.

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

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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18 pages, 1386 KB

Open AccessArticle

Left Atrial Deformation in Paediatric Dilated and Hypertrophic Cardiomyopathy: Insights from Two-Dimensional Speckle-Tracking Echocardiography

by Iolanda Muntean, Beatrix-Julia Hack, Diana-Ramona Iurian, Theodora Benedek, Diana Muntean, Ioana-Octavia Matacuta-Bogdan and Asmaa Carla Hagau

J. Clin. Med. 2025, 14(24), 8622; https://doi.org/10.3390/jcm14248622 - 5 Dec 2025

Cited by 2 | Viewed by 789

Abstract

Background: Left atrial strain (LAS) derived from speckle-tracking echocardiography (STE) provides a sensitive, load-dependent measure of atrial function and ventricular filling pressures. Data on LAS in paediatric cardiomyopathies are still scarce; therefore, this study aimed to assess LA phasic function in dilated [...] Read more.

Background: Left atrial strain (LAS) derived from speckle-tracking echocardiography (STE) provides a sensitive, load-dependent measure of atrial function and ventricular filling pressures. Data on LAS in paediatric cardiomyopathies are still scarce; therefore, this study aimed to assess LA phasic function in dilated (DCM) and hypertrophic (HCM) cardiomyopathy and to determine its relationship with clinical and echocardiographic indices of disease severity. Methods: We conducted a cross-sectional case–control study that included 84 children (DCM n = 29, HCM n = 29, control n = 26) who underwent comprehensive clinical and echocardiography evaluation, including LAS parameters (reservoir—LASr; conduit—LAScd; and contractile—LASct). Group comparisons were performed using ANOVA or Kruskal–Wallis tests with post hoc adjustments, and correlations were analysed using Pearson’s or Spearman’s coefficients. Multivariable linear and logistic regression models were adjusted for age, body surface area (BSA), heart rate (HR), and blood pressure (BP) percentiles. Results: LASr and LAScd were significantly reduced in both cardiomyopathy groups compared with controls (p < 0.001), following a graded pattern (DCM < HCM < control). In DCM, lower LASr was independently associated with higher left atrial volume index (LAVi) and elevated E/E′ ratio, whereas in HCM, septal hypertrophy (IVSd Z-score) and log NT-proBNP were dominant determinants of impaired LASr. In logistic regression, LASr (OR = 0.93, p = 0.016) and LAScd (OR = 1.21, p = 0.001) independently predicted severe NYHA/Ross functional class after covariate adjustment, while LASct showed no significant association. Conclusions: These findings demonstrate that LA reservoir and conduit strain are markedly impaired in paediatric cardiomyopathy and are strongly linked to structural remodelling and functional limitation, underscoring their value as sensitive non-invasive markers of disease severity. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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13 pages, 624 KB

Open AccessArticle

Outcomes of a Near-Zero Fluoroscopy and Minimally Invasive Approach in Ablation of Right Free Wall Accessory Pathways in Children

by Cristina Raimondo, Francesco Flore, Antonino Maria Quintilio Alberio, Silvia Garibaldi, Rita Blandino, Nicoletta Cantarutti, Corrado Di Mambro, Massimo Stefano Silvetti and Fabrizio Drago

J. Clin. Med. 2025, 14(17), 6204; https://doi.org/10.3390/jcm14176204 - 2 Sep 2025

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Abstract

Background: Right free wall (RFW) accessory pathways (APs) represent a relatively rare form of AP, and transcatheter (TC) ablation of these APs carries high procedural failure rates, both with radiofrequency (RF) and cryoenergy. The aim of this study was to report the [...] Read more.

Background: Right free wall (RFW) accessory pathways (APs) represent a relatively rare form of AP, and transcatheter (TC) ablation of these APs carries high procedural failure rates, both with radiofrequency (RF) and cryoenergy. The aim of this study was to report the outcomes of a minimally invasive approach in non-fluoroscopic 3D TC ablation of RFW APs, comparing cryoenergy and RF. Methods: Between March 2010 and March 2024, 62 consecutive patients with RFW APs underwent transcatheter ablation at our institution with a minimally invasive approach. The ablation results were analyzed and compared. Results: The overall acute success rate was 83.9% [52/62 patients; 25/28 (89.3%) for right lateral (RL) APs, 18/19 (94.7%) for right anterior–lateral (RAL) APs, and 9/15 (60.0%) for right posterior–lateral (RPL) APs, p = 0.014], with very limited fluoroscopy use and no complications. There were no significant differences in the acute success rates between the RF and cryoablation groups (32/37 vs. 20/25, p = 0.506). The median follow-up was 24.8 months (IQR 12.5–49.8), and 16 recurrences (30.8%) were observed (3 in the cryoablation group and 13 in the RF group, p = 0.068). The RAL localization of the AP and age > 12 years were predictors of ablation success in multivariate regression analysis. Conclusions: In children, a minimally invasive 3D TC ablation of RFW APs is a completely safe and quite effective approach, with better results for RAL and RL APs, poorer results for RPL APs, and no significant differences between cryoenergy and RF. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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11 pages, 227 KB

Open AccessArticle

Extracellular Matrix Tissue Patch for Aortic Arch Repair in Pediatric Cardiac Surgery: A Single-Center Experience

by Marcin Gładki, Anita Węclewska, Paweł R. Bednarek, Tomasz Urbanowicz, Anna Olasińska-Wiśniewska, Bartłomiej Kociński and Marek Jemielity

J. Clin. Med. 2025, 14(11), 3955; https://doi.org/10.3390/jcm14113955 - 3 Jun 2025

Cited by 2 | Viewed by 1615

Abstract

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 [...] Read more.

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

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

Review

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31 pages, 6395 KB

Open AccessReview

Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review

by Alessandro Felici, Cristina Angellotto, Arianna Ruta, Mauro Ciro Antonio Rongioletti, Paolo Versacci and Gioia Mastromoro

J. Clin. Med. 2026, 15(14), 5342; https://doi.org/10.3390/jcm15145342 - 8 Jul 2026

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Background: Heritable thoracic aortic disease (HTAD) encompass a heterogeneous spectrum of conditions characterized by increased susceptibility to developing thoracic aortic aneurysm and life-threatening complications, including aortic dissection and rupture. Despite distinct underlying mechanisms involving extracellular matrix integrity, vascular smooth muscle cell function, [...] Read more.

Background: Heritable thoracic aortic disease (HTAD) encompass a heterogeneous spectrum of conditions characterized by increased susceptibility to developing thoracic aortic aneurysm and life-threatening complications, including aortic dissection and rupture. Despite distinct underlying mechanisms involving extracellular matrix integrity, vascular smooth muscle cell function, and dysregulation of signaling pathways, these disorders converge on a shared vulnerability of the aortic wall. Although acute events typically occur in adulthood, the disease process often begins early in life, making HTAD highly relevant in pediatric practice, where early recognition and longitudinal management are essential. Aims: This narrative review provides a biology- and genetics-oriented, translational complement to current consensus recommendations, framing pediatric HTAD as a developmentally shaped disorder of the aortic wall in which genotype increasingly informs diagnosis, surveillance, and treatment. Methods: Relevant studies were identified through a comprehensive PubMed search, with particular focus on pathogenic mechanisms, current clinical guidelines, follow-up strategies and emerging genetic perspectives. Results: Genetic testing is emerging as a key tool for the management of HTAD, although its clinical utility remains limited by provisional genotype–phenotype correlations and inconclusive results. Current risk stratification is still mainly based on aortic diameter surveillance, while pharmacological strategies are predominantly extrapolated from Marfan syndrome trials, highlighting important gaps in evidence. Conclusions: Genetic advances are expanding management opportunities in HTAD, but their clinical translation remains challenging. Disease-specific risk models integrating genetic and clinical data may improve individualized risk stratification, treatment strategies and clinical outcomes. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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20 pages, 853 KB

Open AccessReview

Transition from Paediatric to Adult Care in Congenital Heart Disease: A Call for Action

by Fabiola Boccuto, Rosaria Barracano, Giulia Guglielmi, Anamaria Mihailescu, Martina Avesani, Elettra Pomiato, Pierfrancesco Montanaro, Gabriele De Palma, Berardo Sarubbi, Antonella Bruna Cutrì, Jolanda Sabatino, Massimo Chessa, Gianfranco Butera and Claudia Montanaro

J. Clin. Med. 2025, 14(24), 8869; https://doi.org/10.3390/jcm14248869 - 15 Dec 2025

Cited by 2 | Viewed by 1639

Abstract

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 [...] Read more.

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

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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Other

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7 pages, 1491 KB

Open AccessBrief Report

Evaluation and Management of Recurrent Atrial Flutter in Neonates

by Nandini Aravindan, Peter R. A. Gaskin and Sudhir Vashist

J. Clin. Med. 2025, 14(19), 7126; https://doi.org/10.3390/jcm14197126 - 9 Oct 2025

Cited by 2 | Viewed by 1902

Abstract

Background: Fetal tachyarrhythmias occur in less than 0.1% pregnancies, with atrial flutter accounting for one-third of cases. Atrial flutter results from a reentrant circuit within the atrium with atrial rates in fetal atrial flutter ranging from 300 to 540 beats per minute. [...] Read more.

Background: Fetal tachyarrhythmias occur in less than 0.1% pregnancies, with atrial flutter accounting for one-third of cases. Atrial flutter results from a reentrant circuit within the atrium with atrial rates in fetal atrial flutter ranging from 300 to 540 beats per minute. The fetal atrial flutter is most often an isolated finding; however, it may also be associated with maternal diabetes, neonatal macrosomia, cardiac rhabdomyoma, maternal substance use, Turner syndrome, congenital heart disease, and the presence of accessory pathways. The majority of cases of atrial flutter in the neonatal period are isolated; however, only a few cases of recurrent atrial flutter have been described. Methods: This is a single-institution, retrospective chart review of neonates with recurrent atrial flutter. Results: Four neonates with recurrent atrial flutter were identified, each linked either to a correctable trigger or to an underlying substrate, guiding individualized therapy. When no clear trigger was present, antiarrhythmic medication was required. Conclusions: These cases highlight the importance of the recognition of potential triggers of recurrent neonatal atrial flutter, tailoring therapy accordingly and considering antiarrhythmic agents when necessary. Full article

(This article belongs to the Special Issue Clinical Management of Pediatric Heart Diseases)

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