BackgroundOlder patients with severe cyanosis from unrepaired tetralogy of Fallot (TOF) face high perioperative morbidity despite technically straightforward surgical repair. Chronic hypoxemia leads to myocardial metabolic adaptation, polycythemia, and increased susceptibility to reperfusion injury. Preoperative optimization may improve outcomes in this high-risk group.ObjectiveTo evaluate whether palliative balloon pulmonary valvotomy (BPV) before intracardiac repair (ICR) improves immediate postoperative outcomes in severely cyanotic patients with uncomplicated TOF.MethodsA prospective observational study was conducted on 42 patients (age: 5 months-40 years) with severe cyanosis (oxygen saturation <70%) undergoing BPV followed by elective ICR. Pre and postoperative parameters including oxygen saturation, hemoglobin, hematocrit, ventilation duration, vasoactive inotrope score, intensive care unit (ICU) stay, and hospital stay were recorded. Outcomes were compared with 49 matched controls undergoing direct ICR without BPV.ResultsBalloon pulmonary valvotomy led to a mean saturation increase of 15 ± 3% in 90% of patients, with reported improvement in functional capacity and cessation of cyanotic spells. Compared with the direct ICR group, BPV-ICR patients had significantly shorter ventilation time (13.3 ± 13.8 vs 29.1 ± 37.4 h, P = .011), inotrope duration (46.9 ± 15.5 vs 64.3 ± 30.8 h, P = .001), ICU stay (62.9 ± 36.8 vs 94.9 ± 43.1 h, P < .001), and hospital stay (6.6 ± 3.6 vs 10.6 ± 2.8 days, P = .001). No mortality occurred in the BPV-ICR group versus two deaths in the control group.ConclusionsPalliative BPV significantly improves preoperative condition and reduces immediate postoperative morbidity in severely cyanotic, anatomically suitable TOF patients. A staged BPV-ICR approach may be a safe, effective strategy in resource-limited settings.

Optimal Size of Transannular Patches for Tetralogy of Fallot Repair.

Native T1 and extracellular volume (ECV) mapping have emerged as promising tools for noninvasive assessment of hepatic congestion and fibrosis; however, optimal strategies for region-of-interest (ROI) selection remain uncertain. The aim was to evaluate the level of agreement between two methods for quantifying hepatic native T1 and ECV: single wide ROI versus multiple small ROIs, in patients with repaired tetralogy of Fallot (TOF) and Fontan circulation. This agreement study prospectively enrolled outpatients with repaired TOF or Fontan circulation between 2022 and 2025. All participants underwent hepatic evaluation using a cardiac Magnetic Resonance Imaging (MRI) protocol on a 3.0-T scanner. Native and post-contrast T1 mapping were acquired using Modified Look-Locker Inversion Recovery (MOLLI) sequences. Hepatic T1 and ECV were measured using (1) one wide ROI avoiding vascular structures and (2) three small circular ROIs placed in distinct parenchymal regions. Agreement was assessed using intraclass correlation coefficients (ICC) and survival-agreement plots. A total of 61 patients was included (31 with TOF; 30 with Fontan circulation). Agreement between single-ROI and multiple-ROI strategies was excellent in TOF patients for both native T1 and ECV (ICC = 0.98), and good in patients with Fontan circulation for both parameters (ICC = 0.79). Survival-agreement analysis demonstrated that in TOF patients, all measurements differed by less than 80 ms for native T1 and less than 5% for ECV. In Fontan patients, 86% of measurements showed differences < 80 ms for native T1 and < 5% for ECV, reflecting greater hepatic heterogeneity while preserving overall concordance between ROI strategies. Hepatic native T1 and ECV measurements showed excellent agreement between single-wide and multiple-small ROI strategies in repaired TOF, supporting interchangeable use for longitudinal follow-up. In Fontan patients, concordance between methods was also good, as demonstrated by both ICC and survival-agreement analyses, indicating that either strategy remains feasible; nonetheless, the greater hepatic heterogeneity in this population warrants some caution when comparing measurements obtained with different ROI approaches.

Genetic Syndromes Do Not Affect Survival but Increase Morbidity in Neonates with Symptomatic Tetralogy of Fallot.

The aim is to evaluate the transannular patch (TAP) repair and valve-sparing repair (VSR) techniques following tetralogy of Fallot (TOF) correction, focusing on post-operative complications and cardiac function. A comprehensive search was performed in PubMed, EMBASE, and Scopus using relevant terms like “Tetralogy of Fallot, right ventricular outflow tract (RVOT), VSR, pulmonary valve replacement, transannular-patch repair”. Results indicated that VSR is favored due to its shorter cardiopulmonary bypass duration, preservation of the pulmonary valve, less demanding surgical requirements, shorter post-operative hospital stays, lower mortality rates, survival of at least 30 years, reduced pulmonary regurgitation, decreased right ventricular dysfunction, and improved physical activity tolerance and neurodevelopment. While TAP alleviates RVOT obstruction (RVOTO), it is associated with long-term pulmonary regurgitation. Both TAP and VSR are effective in managing TOF, but VSR provides better valve function preservation and long-term outcomes.

Tetralogy of Fallot (TOF) with Pulmonary Atresia (PA) and Major Aortopulmonary Collateral Arteries (MAPCAs) represents the most severe expression of TOF. In this condition, instead of pulmonary stenosis, there is complete pulmonary valve atresia. Consequently, blood flow to the lungs occurs through collateral vessels that arise from the systemic circulation. The survival rate for patients with TOF and MAPCAs without surgery is low: approximately 50% at one year and 8% at 12 years. TOF accounts for about 3.5% of all congenital heart diseases, occurring in one in 3,600 live births, or 0.28 per 1,000 live births. Both genders are equally affected. Most patients present with symptoms in early childhood, which include fatigue, cyanosis, and shortness of breath, necessitating prompt medical intervention. The present case report is of a 25-year-old female who remained asymptomatic until the postpartum period of a third pregnancy.

Congenital heart disease and ectodermal dysplasia syndrome (CHDED syndrome) (MIM: 617364) is an autosomal dominant disorder cause by PRKD1 gene pathogenic variants, characterised mainly by congenital heart defects (CHD) and ectodermal dysplasia, along with other variable clinical features (including skeletal defects). Whole exome sequencing was performed on a 7-year-old male proband with CHD, born of non-consanguineous Asian Indian origin couple with affected father and unaffected mother. We identified a novel heterozygous splice variant in PRKD1 (c.1906-1 G > T) in the proband, inherited from the affected father. Transcript analysis confirmed that the PRKD1 splice variant caused the complete skipping of exon 14. Interestingly, the proband exhibited a novel extended phenotype, which include CHD - TOF, and sagittal craniosynostosis, thus broadening the phenotypic spectrum of CHDED syndrome. Affected father showed CHD (septal defects) and no craniosynostosis. Further functional studies are required to elucidate the association of PRKD1 sequence variants with craniosynostosis observed in the proband.

A 9-year-old male presented to our emergency department with dyspnea on exertion, chest tightness and peripheral cyanosis. His oxygen saturation (SpO₂) on room air was 75%. Following admission, preoperative investigations including transthoracic echocardiography, chest radiography and laboratory examinations revealed Tetralogy of Fallot (TOF) and a unilateral pulmonary hydatid cyst. The diagnosis was confirmed intraoperatively. Through a median sternotomy under cardiopulmonary bypass, the left lung hydatid cyst was successfully resected. The Ventricular Septal Defect (VSD) was repaired using a treated pericardial patch. The Right Ventricular Outflow Tract (RVOT) muscle bands were resected and the pulmonary trunk was enlarged with a pericardial patch.

Congenital heart disease (CHD) is one of the most common congenital disorders, affecting approximately 8 per 1,000 live births in Indonesia. This study aimed to describe the demographic and clinical characteristics of pediatric patients with CHD treated at Rumah Sakit Jantung dan Pembuluh Darah Harapan Kita from 2019 to 2023. A descriptive cross-sectional study was conducted using medical record data from 5,599 patients under the age of 18. Variables analyzed included annual case distribution, demographic characteristics, CHD classification, complications, and treatment outcomes. The highest number of cases was recorded in 2023 (1,457 cases; 26.02%). Most patients were under five years old (59.94%), with a slight female predominance (50.94%). Acyanotic CHD was more prevalent (60.33%), predominantly ventricular septal defect (53.11%), while cyanotic CHD accounted for 39.67%, dominated by Tetralogy of Fallot (59.70%). Congestive heart failure and pulmonary hypertension were the most frequent complications. Cyanotic CHD was associated with growth and developmental disorders and malnutrition, whereas acyanotic CHD generally demonstrated adequate nutritional status. The most common intervention was total repair of Tetralogy of Fallot. Surgical success rates were high in acyanotic (97.37%) and cyanotic CHD (94.73%). Mortality was higher in cyanotic CHD, particularly with delayed diagnosis. Early detection improves outcomes significantly overall.

Advances in surgical techniques have substantially improved survival in patients with repaired tetralogy of Fallot (ToF). However, residual lesions following repair may lead to long-term complications, including arrhythmias and the need for device therapy. We conducted a retrospective single-center cohort study including patients who underwent surgical repair of ToF between 1960 and the present. Patients were categorized into three treatment eras (<1980, 1980-2000, >2000). Data on surgical strategy, mortality, arrhythmias, and cardiac implantable electronic device (CIED) implantation were collected from institutional databases. A total of 640 patients were included, of whom 360 (56.3%) underwent transannular patch (TAP) repair and 280 (43.7%) underwent non-TAP repair. Overall mortality was 7.2%, with cardiac causes accounting for 41.3% of deaths. Arrhythmias occurred in 14.4% of patients and were more frequently observed in those who underwent TAP repair (18.8%). CIED implantation was required in 7.5% of patients, most commonly implantable cardioverter defibrillators. The incidence of arrhythmias decreased across treatment eras, whereas overall survival did not differ significantly between eras. Long-term survival after surgical repair of ToF is favorable. Arrhythmias remain an important late complication, particularly in patients who underwent TAP repair, although their frequency appears to have decreased in more recent treatment eras. These findings underscore the long-term impact of initial surgical strategy on arrhythmic outcomes.

We report a rare case of a persistent fifth aortic arch (PFAA) associated with an isolated left subclavian artery (ILSA) in a patient with Tetralogy of Fallot (TOF). We report an 11-month-old female with TOF, in whom cardiac computed tomography revealed a double-lumen aortic arch and nonvisualized origin of the left subclavian artery, consistent with PFAA and ILSA. This case highlights the importance of advanced imaging in identifying complex congenital vascular anomalies.

Objective: To explore the role and underlying mechanisms of transient receptor potential vanilloid 4 (TRPV4) in pressure overload-induced myocardial fibrosis in fetal tetralogy of Fallot (TOF). Methods: Fetal cardiac samples diagnosed by prenatal echocardiography or postmortem examination were retrospectively collected from Qingdao University Affiliated Women and Children's Hospital between May 2022 and July 2024, including 4 cases in the Tetralogy of Fallot (TOF) group and 4 cases in the structurally normal heart control group. Histological analysis of myocardial hypertrophy, fibrosis, and collagen content was performed on collected right ventricular wall tissues using hematoxylin-eosin (HE), Masson＇s trichrome, and Sirius red staining. Immunohistochemistry was used to detect the expression levels of TRPV4, Ras homolog gene family member A (RhoA), and Rho-associated coiled-coil containing protein kinase 1 (ROCK1) in myocardial tissues, while Western blot was applied to measure the expression of Collagen Ⅰ, Collagen Ⅲ, and α-smooth muscle actin (α-SMA). In vitro, human umbilical vein endothelial cells (HUVEC) at passages 3 to 6 were seeded on hydrogel-coated plates with different stiffnesses (8 kPa, 50 kPa) and divided into 8 kPa, 50 kPa, and 50 kPa+TRPV4 inhibitor (pretreated with a TRPV4 antagonist) groups. Small interfering RNA targeting TRPV4 (siTRPV4) and negative control siRNA (siNC) were transfected into HUVECs to establish TRPV4-knockdown models. These cells were then seeded on hydrogel plates of varying stiffness and divided into 8 kPa, 50 kPa, siNC, and siTRPV4 groups. Western blot was used to assess the expression levels of TRPV4, RhoA, ROCK1, Collagen Ⅰ, Collagen Ⅲ, α-SMA, CD31, vascular endothelial cadherin (VE-cadherin), and endothelial-mesenchymal transition (EndMT)-related regulatory proteins (p-Smad2 and the transcription factor Slug). Results: HE staining revealed cardiomyocyte hypertrophy in the right ventricular wall of the TOF group compared with the control group, accompanied by varying degrees of myocardial disarray. Masson＇s trichrome staining indicated a higher percentage of fibrotic area in the right ventricular myocardium of the TOF group, and Sirius red staining showed a larger collagen deposition area (all P<0.05). Compared with the control group, the TOF group exhibited significantly higher protein expression of Collagen Ⅰ, Collagen Ⅲ, and α-SMA, along with enhanced positive signal intensity for TRPV4, RhoA, and ROCK1 (all P<0.05). In vitro experiments, compared with the 50 kPa group, both the 8 kPa group and the 50 kPa+TRPV4 inhibitor group had lower expression levels of Collagen Ⅰ, Collagen Ⅲ, α-SMA, p-Smad2, Slug, TRPV4, RhoA, and ROCK1, while expression levels of CD31 and VE-cadherin were higher (all P<0.05). Similarly, the siTRPV4 group showed lower expression of Collagen Ⅰ, Collagen Ⅲ, α-SMA, TRPV4, RhoA, ROCK1, Slug and p-Smad2, and higher expression of CD31 and VE-cadherin compared with the 50 kPa group (all P<0.05). In contrast, no significant differences in the expression of these proteins were observed between the siNC group and the 50 kPa group (all P>0.05). Conclusions: The right ventricle myocardium of TOF fetuses exhibits evident myocardial fibrosis. Mechanical stimulation induced by high-pressure load activates TRPV4, which may mediate EndMT in cardiac vascular endothelial cells through regulation of the RhoA/ROCK1 signaling pathway. This mechanism may represent one of the primary pathological contributors to myocardial fibrosis development.

Objectives: The modified Blalock–Taussig Shunt (MBTS) is a common palliative surgery for neonates, infants, and children with congenital cyanotic heart diseases, namely tetralogy of Fallots’, pulmonary atresia to complex single ventricle heart anomalies. The MBTS procedure allows growth of the pulmonary arteries and maintains regulated blood flow to the lungs till a proper age and body weight suitable for definite corrective repair is reached. However, perioperative management, especially in neonates, remains challenging due to their unique physiology and comorbidities, in addition to the disease itself. Material and Methods: In this retrospective study, medical records of all neonates who underwent MBTS in our institute from August 2016 to May 2018 were reviewed, and 14 neonates who satisfied the inclusion criteria were included in the study. The relevant data of these neonates were collected and analyzed. Results: Preoperatively, 5 (35.71%) neonates were on prostaglandin E1 infusion. Two (14.2%) neonates had an intraoperative hypercyanotic spell and hemodynamic instability during isolation of the pulmonary vessels. Pre-operative arterial oxygen tension (PaO2) ranged from 20 to 65 mmHg and increased to 62–88 mmHg ( P = 0.0001) postoperatively. Early graft thrombosis occurred in one case (7.14%), requiring reoperation. High pulmonary blood flow (1 case [7.14%]), re-intubation (1 case [7.14%]), tracheostomy (1 case [7.14%]), and high post-operative lactate (2 cases [14.28%]) lead to altered hemodynamics, respiratory complications, and prolong intensive care unit stay. Mortality occurred in two (14.28%) cases in our series. Conclusion: The MBTS in neonates gives excellent results, but poses challenges for the team of anesthesiologists due to associated comorbidities, intrinsic neonatal physiology, apart from the lesion itself. Expert care by multidisciplinary team members, including anesthesiologists, surgeons, cardiologists, and neonatologists, and with vigilant monitoring, plays a vital role in facilitating optimal outcomes of these neonates.

Introduction and Objective: This study aims to evaluate the effect of perioperative factors and radiographic Brixia scores on early extubation following corrective surgery for Fallot tetralogy at a high-volume single cardiac center. Materials and Methods: A retrospective evaluation was conducted on 120 cases who underwent complete correction due to Fallot tetralogy [Median age 6 months (IQR 5-7), Median weight 6.2 kg (IQR 5.2-8 kg)]. Patient demographics, preoperative characteristics, intraoperative variables, postoperative outcomes, surgical type, surgical duration, cardiopulmonary bypass (CPB) time, cross-clamp time, and blood product volumes were retrieved from electronic medical records. P/F ratio, PaO2/FiO2, and Oxygen Index (OI) were calculated. Early extubation was defined as extubation occurring within 6 h after the completion of surgery. The Brixia score (Interstitial opacities, 1 point; interstitial predominant alveolar, 2 points; and interstitial and alveolar opacities, 3 points) was graded for both lung lobes divided into three segments, with a total score ranging from 0 to 18. The results were analyzed statistically. Results: In 60% of the cases (n = 72), valve-preserving surgery was performed, and in 40% (n = 48), a transannular patch was used. The early extubation rate was 20% (n = 24). The median duration of mechanical ventilation was 10 h (IQR, 6-15). Older age (median 8 vs. 5 months), valve-preserving surgery, lower incidence of right-to-left shunt Patent Foramen Ovale (63% vs. 84%), higher P/F ratio on ICU admission (360 vs. 220), and lower Brixia scores on ICU admission (8 vs. 11) and on postoperative day 1 (7 vs. 12) were identified as significant factors for early extubation (p < 0.05). The mortality rate in the entire patient group was 3.3%. In multivariable logistic regression analysis, older age (OR: 1.2, 95% CI: 1.1-1.9 p = 0.03), valve-sparing repair (OR: 1.7, 95% CI: 1.2-2.5, p = 0.008), and lower postoperative Brixia scores (OR:1.4 95% CI: 1.2-2.1, p = 0.02) remained independently associated with early extubation. Conclusions: The Brixia score can be used as a reliable scoring system for evaluating postoperative lung status. Pulmonary valve-preserving repair shows a profile of earlier lung parenchyma recovery compared to transannular patch repair.

Normative pediatric electrocardiographic (ECG) parameters are standardized, but lack temporal resolution for neonates and infants. These values are clinically important, as they support the diagnosis, risk stratification, and management of cardiovascular diseases (CVD). Five ECG parameters (heart rate (HR), QRS, PR, QT, QTc intervals) were retrospectively analyzed from 7,346 recordings from 6,967 patients at a large pediatric hospital. Patients were only included if their ECG was adjudicated as normal by a pediatric cardiologist. Patients were assigned to 45 age groups: neonates (1-35 days, 35 groups), infants (2-6 months, 5 groups), and young children (1-5 years, 5 groups). Sensitivity analysis ranked ECG parameters to determine those most affected by age. Z-scores were used to quantify deviations in developmental ECG parameter trajectories in CVD-free patients compared with unrepaired tetralogy of Fallot (TOF, n=305). Developmental shifts in ECGs were observed for all patients, irrespective of whether intensive care unit or CVD patients were included in the analysis. All five ECG parameters differed significantly between early (1-8 days) and late neonates (9-35 days). Sensitivity analysis revealed rapid ECG parameter adaptations during the neonatal stage, with slower changes during infancy and early childhood. Unrepaired TOF patients had significantly different HR, PR, and QRS values in the late neonatal group compared with CVD-free children. Z-scores revealed disease-specific deviations (≥ 2 SD of baseline), including outlier QTc values in 32.7% and 24.3% of early and late neonatal TOF patients, respectively. This study defined the values of five key ECG parameters, with enhanced age-specific resolution in neonates, infants, and children. Neonatal age emerged as the most dynamic stage for ECG parameter changes. This study demonstrated that high temporal resolution of age-specific ECG parameters can identify abnormal deviations, which can provide valuable insight for the diagnosis and management of CVD in early life.

ECG-age, derived from ECG signals using deep neural networks (DNNs), correlates with health status but has been predominantly studied in adults, neglecting the unique development trajectories of pediatric hearts. This study evaluates and proposes a pediatric-specific ECG-age model for clinical application. Validated on 58,672 ECGs from healthy children, three approaches were assessed: a pre-trained adult model, the same model retrained on pediatric data, and feature-enhanced models which was used to enhance the interpretability of the model. Results demonstrate limited applicability of adult-derived models, while dedicated pediatric models achieved accurate age assessment (MAE: 7.878 ± 6.658 months, R²=0.821), further confirmed on external data. Analysis of 209,644 ECGs across 21 pediatric diseases and 102,441 ECGs with 20 abnormalities revealed that an large ECG-age gap between chronological age indicates stronger associations with diseases or abnormalities. In a specific scenario study, ECG-age significantly correlated with postoperative complications in tetralogy of Fallot (TOF) surgery children. These findings indicate that pediatric-specific ECG-age models can effectively measure children's cardiac development and signal pathological conditions, supporting their potential as a widely applicable clinical digital biomarker in pediatrics.

Congenital heart diseases (CHD) require an in-depth anatomopathological understanding. 3D printing is a promising educational tool for creating physical prototypes from imaging data, but costs are a major issue. This study aimed to describe a feasible low-cost workflow for the development of 3D-printed (3DP) CHD models and create a shareable educational set. Data from cardiac tomography images were used, following the steps of image acquisition, segmentation, digital design, slicing, 3D printing, and post-printing. Valvar structures were created from echocardiographic data using the cartographic heightmap technique and inserted into prototypes. 3DP models were evaluated by an expert team, enhanced, and applied to medical residents during an educational session. Free software, a desktop 3D printer, and low-cost materials were used. Twelve 3DP models were developed, including ventricular septal defect with patent ductus arteriosus, atrial septal defect, Tetralogy of Fallot, transposition of the great arteries, atrioventricular septal defect, coarctation of the Aorta, hypoplastic left heart syndrome, tricuspid atresia, pulmonary atresia, total anomalous pulmonary venous connection, Truncus arteriosus, and interrupted aortic arch. All residents (100%) agreed that prototypes were "faithful to the anatomy", "visually appealing", "motivated the study", and "allowed better spatial conceptualization". They related 3DP CHD models "are an important pedagogical resource" and can potentially benefit the education of "undergraduate students" (100%), "interdisciplinary team" (100%), "cardiologists, surgeons and residents" (100%), and "families" (93%). Development of 3DP CHD models using a low-cost workflow is feasible. Models developed are freely available for download and printing, intending to promote education to all interested in CHD.

Background Congenital heart diseases (CHD) require an in-depth anatomopathological understanding. 3D printing is a promising educational tool for creating physical prototypes from imaging data, but costs are a major issue. Objective This study aimed to describe a feasible low-cost workflow for the development of 3D-printed (3DP) CHD models and create a shareable educational set. Methods Data from cardiac tomography images were used, following the steps of image acquisition, segmentation, digital design, slicing, 3D printing, and post-printing. Valvar structures were created from echocardiographic data using the cartographic heightmap technique and inserted into prototypes. 3DP models were evaluated by an expert team, enhanced, and applied to medical residents during an educational session. Free software, a desktop 3D printer, and low-cost materials were used. Results Twelve 3DP models were developed, including ventricular septal defect with patent ductus arteriosus, atrial septal defect, Tetralogy of Fallot, transposition of the great arteries, atrioventricular septal defect, coarctation of the Aorta, hypoplastic left heart syndrome, tricuspid atresia, pulmonary atresia, total anomalous pulmonary venous connection, Truncus arteriosus, and interrupted aortic arch. All residents (100%) agreed that prototypes were “faithful to the anatomy”, “visually appealing”, “motivated the study”, and “allowed better spatial conceptualization”. They related 3DP CHD models “are an important pedagogical resource” and can potentially benefit the education of “undergraduate students” (100%), “interdisciplinary team” (100%), “cardiologists, surgeons and residents” (100%), and “families” (93%). Conclusion Development of 3DP CHD models using a low-cost workflow is feasible. Models developed are freely available for download and printing, intending to promote education to all interested in CHD.

Background/Objectives: Progress in diagnostic and therapeutic strategies has resulted in an increasing prevalence of adults with congenital heart disease (ACHD), including those involving genetically determined syndromes. This study aimed to characterize prevalence, congenital phenotypes, heart failure (HF) stages, comorbidity burden, and current medical management of ACHD and concomitant genetically determined syndromes enrolled in a prospective HF-focused registry. Methods: The PATHFINDER-CHD Registry is a German-based (est. 2022) multicenter observational registry. This web-based platform consecutively tracks ACHD patients across the heart failure spectrum, including those with current or prior HF, as well as those at high structural or functional risk. HF stage was classified using a modified ACC/AHA scheme adapted for CHD; functional capacity was graded according to the Perloff classification. Baseline demographics, CHD anatomy, prior surgical/interventional treatment, cardiac and extracardiac comorbidities, and medication were collected from medical records. Results: Among 1987 enrolled ACHD, 107 (5.4%) had a genetic syndrome (n = 65, 60.7% women; mean age 33.5 ± 9.4 years; range 18-68). Most common syndromes were trisomy 21 (n = 49; 45.8%) and 22q11.2 deletion (n = 27; 25.2%); 31 patients (30.0) had rarer syndromes. Predominant CHD diagnoses were atrioventricular septal defect (n = 42, 39.3%), tetralogy of Fallot (n = 19, 17.8%), and pulmonary atresia with ventricular septal defect (n = 7, 6.5%). A systemic left ventricle was present in 102 (95.3%); 40 (37.4%) had primarily cyanotic CHD, and 7 (6.5%) an Eisenmenger physiology. Most patients (n = 71; 66.4%) had undergone definite surgical repair; 25 patients (23.3%) had at least one catheter intervention, including transcatheter valve implantation in 17 cases (15.9%). HF stage was mainly B (n = 30, 28.0%) or C (n = 75, 70.1%). Perloff functional class I/II was present in 97 (90.7%). Leading cardiac comorbidities included intrinsic aortopathy (n = 49, 45.8%), pulmonary arterial hypertension (n = 12, 11.2%), and arrhythmias (n = 10, 9.3%). Frequent extracardiac comorbidities were thyroid dysfunction (n = 34, 31.8%), kidney disease (n = 16, 15.0%), hyperuricemia (n = 13, 12.1%), and depression (n = 15, 14.0%). Pharmacotherapy was used in 66 patients (61.7%). Beta-blockers (n = 25, 23.4%) were common, while ACEi/ARB (n = 9, 8.4%), diuretics (n = 10, 9.3%), MRAs (n = 8, 7.5%), and SGLT2 inhibitors (n = 3; 2.8%) were infrequently prescribed; no patient received ARNI or digitalis. For targeted treatment of pulmonary arterial hypertension, phosphodiesterase-5 inhibitors (n = 7, 6.5%), endothelin receptor antagonists (n = 6, 5.6%), or prostacyclin analogues (n = 1, 0.9%) were used. As oral anticoagulants, vitamin K antagonists or direct oral anticoagulants (DOACs) were prescribed in 17 cases (15.9%). Forty-one patients (38.3%) received thyroid hormone replacement. Conclusions: Syndromic ACHD constitute a small but clinically high-risk subgroup within an HF-oriented registry, marked by complex CHD, substantial cardio-extracardiac multimorbidity (notably aortopathy, PAH, thyroid disease, renal dysfunction, depression), and low utilization of contemporary HF therapies. These data support specialized, interdisciplinary, longitudinal care pathways and prospective studies addressing outcomes and evidence-based HF management in syndromic ACHD.

Background: Global longitudinal strain (GLS), derived from long-axis cine images (LAX), is a sensitive marker for myocardial dysfunction and a strong predictor for clinical events and future ventricular deterioration. In patients with complex congenital heart disease (CHD) transverse-oriented cine imaging is part of the standard cardiac magnetic resonance (CMR) protocol. We aimed to study the feasibility and reproducibility of strain measurements derived from transverse-oriented cine images (Transverse Strain (TrS)) and compare them with standard GLS. Methods: We retrospectively analyzed CMR cine images from 40 patients (n = 20 Fontan, n = 20 Tetralogy of Fallot (ToF)) and 10 healthy controls. Strain analysis was performed in every subject using both the conventional GLS and the TrS approach. Results: TrS showed high intra- and interobserver reproducibility in patients with CHD (intraclass correlation coefficient (ICC) > 0.75, p < 0.05). Intermethod agreement between TrS and GLS was strong in Fontan patients and in the right ventricle (RV) of ToF patients (ICC > 0.75) but showed a positive bias for TrS in the left ventricle (LV) of ToF patients (mean difference = 5.03) and in both ventricles of healthy controls (mean difference LV = 5.36, RV = 4.01). Conclusions: TrS is feasible and reproducible and may offer a new methodological approach for strain assessment, especially in CHD patients with univentricular physiology and ToF patients. Further studies are needed to validate this new approach and perform correlations to clinical outcomes.