Search Results (130)

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. Full article

Background/Objectives. Ebstein’s anomaly (EA), which accounts for fewer than 1% of congenital heart diseases, and atrioventricular canal defect (AVCD), present in approximately 4–5% of cases, exceptionally coexist, with this combination observed in fewer than 0.5% of patients with AVCD. We aim to report the oldest documented case of a 45-year-old female with the exceptionally rare combination of complete AVCD, EA, and right ventricular hypoplasia and to provide a concise review of these anomalies. Case presentation. Diagnosed in early childhood with a complete AVCD, pulmonary stenosis, and right ventricular (RV) hypoplasia, the patient underwent palliative surgical intervention with a modified Blalock–Taussig shunt at the age of 10 but did not receive subsequent regular follow-up. Over the ensuing 35 years, she remained largely untreated until presentation at 45 years of age with progressive exertional dyspnea, central cyanosis, and palpitations, corresponding to NYHA class III. Comprehensive multimodal imaging, including transthoracic echocardiography and cardiac magnetic resonance, revealed a complete AVCD with moderate-to-severe mitral regurgitation secondary to an anterior mitral leaflet cleft, severe tricuspid regurgitation, RV hypoplasia, and hallmark features of EA. Given the complex cardiac anatomy and the elevated surgical risk, the patient was considered inoperable, and a strategy of conservative management with multidisciplinary follow-up was implemented. Conclusions. This case highlights the exceptional longevity of a patient with the rare coexistence of complete AVCD, EA, and RV hypoplasia, surviving 45 years from diagnosis despite limited early intervention. It underscores the importance of lifelong follow-up in complex congenital heart disease and illustrates the role of multimodal imaging in assessing anatomy and guiding management when surgical options are high-risk or not feasible. Full article

Background: In cardiology, vasoregulation is one of the most important targets of pharmacotherapy. SOMNOtouch™-NIBP (SOMNOmedics AG, Randersacker, Germany) is a cuffless device designed for continuous, non-invasive blood pressure measurements, and it appears to be ready for use in infants and children with congenital heart disease. For infants, minor methodological modifications are required due to their small body size. Methods: Using this device, we demonstrate fluctuations in diastolic blood pressure in three patients: an infant with hypoplastic left heart syndrome after Norwood stage 1 and 2 operations; an infant with Tetralogy of Fallot with heart failure due to pulmonary overcirculation after an aorto-pulmonary shunt implantation; and a 13-year-old girl with chronic cyanosis due to a congenitally corrected transposition of the great arteries (ccTGA) with a ventricular septal defect and pulmonary stenosis. The measurement procedures are completely non-invasive and feasible in an outpatient setting. Results: The results demonstrate strong correlations between blood pressure and oxygen saturation levels as well as heart rate variability. We discuss our results in relation to current concepts of hypoxic pulmonary/systemic vasoconstriction and hypoxemia-related pathways. Conclusions: The cuffless device for continuous, non-invasive blood pressure measurement seems to be useful for infants with and without congenital heart defects who receive pharmacotherapies that modulate vasoregulation. These patients should also be non-invasively monitored for safety reasons and for a better understanding of their pathophysiology. Full article

Background: Pediatric heart failure (PHF) is a heterogeneous syndrome with high morbidity, but existing classification systems inadequately capture its developmental and pathophysiological complexity due to reliance on adult-centric parameters. Using machine learning, we aimed to identify clinically distinct PHF phenotypes with unique outcomes and therapeutic implications. Methods: In this multicenter retrospective study, we analyzed 2903 consecutive PHF patients (≤18 years) from 30 Chinese tertiary centers from 20 provinces (2013–2022). Unsupervised machine learning (k-means clustering with PCA) evaluated 99 clinical, biomarker, and echocardiographic variables to derive phenotypes, which were compared for mortality, hospitalization, and treatment responses. Results: Three phenotypically distinct clusters emerged. Cluster 1 (Chronic Hypertensive and Cardiorenal Profile, 30.1%) predominantly affected older children (78%) with hypertension (54.4%), renal dysfunction (creatinine 45.8 μmol/L), and ventricular tachycardia (53.8%). This cluster showed the lowest in-hospital mortality (2.5%) but frequent 7–14 day hospitalizations (35.8%) and the highest beta-blocker use (54.5%). Cluster 2 (Preterm and CHD-Associated HF, 43.4%) comprised preterm infants (71.4%) with congenital heart disease (72.2%) and preserved LVEF (67%), demonstrating the highest mortality (5.1%) and prolonged stays (>30 days: 10.6%) with predominant diuretic (40.6%) and antibiotic use (54.3%). Cluster 3 (Fulminant Myocarditis Profile, 26.5%) exhibited cardiogenic shock with severely reduced LVEF (33%) and elevated BNP (3234 pg/mL), showing bimodal outcomes (4.8% LOS < 3 days vs. 32.2% LOS 15–30 days) and the highest IVIG utilization (46.5%) with intermediate mortality (3.8%). The majority of between-group differences were statistically significant (p < 0.001). Conclusions: Machine learning identified three PHF phenotypes with distinct in-hospital risk profiles and therapeutic implications, challenging current classification systems. These findings highlight the potential for phenotype-specific management strategies and provide a rationale for future research into arrhythmia prevention in hypertensive profiles and early immunomodulation in fulminant myocarditis, while highlighting the need for specialized care pathways for preterm/CHD patients. Prospective validation is warranted to translate this framework into clinical practice. Full article

Cardiac magnetic resonance (CMR) is a non-invasive imaging technique that plays a crucial role in the diagnosis, risk stratification, and management of a broad spectrum of cardiovascular diseases. Its high spatial resolution and ability to provide multiparametric tissue characterization make it uniquely suited for evaluating both structural and functional cardiac abnormalities. This review provides a comprehensive and clinically oriented overview of CMR applications in adult cardiology, structured into six main areas: (1) myocardial scarring in ischemic and non-ischemic cardiomyopathies, (2) infiltrative myocardial diseases, (3) adult congenital heart disease, (4) valvular heart disease, (5) pulmonary hypertension and right ventricular morpho-functional evaluation, and (6) cardio-oncology. In addition, technical considerations are also discussed. Finally, recommendations from recent guidelines issued by main international societies are integrated to support clinical decision-making. Full article

Background/Objectives: As survival improves in congenital heart defects (CHD), psychosocial support—particularly during crises—has become increasingly important. We examined how concerns of CHD patients and their relatives evolved during the Coronavirus Disease 2019 (COVID-19) pandemic, focusing on the influence of role (patient vs. relative), gender, and CHD complexity. Methods: The German National Register for Congenital Heart Defects (NRCHD) conducted two nationwide online surveys in April 2020 (Survey 1) and April 2021 (Survey 2). Free-text responses were analyzed using Mayring’s summarizing content analysis. Categories were coded per respondent (present/absent) for exploratory comparisons by year, role, sex, and CHD complexity. Analyses were cross-sectional and descriptive (p-values unadjusted). Results: In survey 1, 15.9%, and in survey 2, 19.3% of respondents provided qualitative information. In 2020, dominant themes included general COVID-19 information (37.3%), lack of CHD-specific information (30.4%), worry (24.1%), fear (23.2%), isolation (21.4%), and uncertainty (21.2%). By 2021, concerns shifted toward vaccination (24.1%) and vaccination prioritization (23.4%), while information gaps (21.8%) and fear (21.0%) persisted. Significant year-to-year changes included decreases in general information needs, concern, isolation, and uncertainty, and increases in prioritization (all p < 0.01). Relatives consistently reported higher psychological burden than patients (p ≤ 0.01). Conclusions: Concerns moved from early fear/uncertainty to vaccination and prioritization one year later, with persistent information needs across subgroups. Clear CHD-specific communication, caregiver-inclusive psychosocial support, and crisis-resilient care pathways (including telemedicine) are essential for this vulnerable population. Full article

Background: Cardiac catheterization may be required in the management of congenital heart diseases. The use of risk scoring or grading systems in these procedures can assist in planning the intervention and predicting potential complications. This study aimed to evaluate the use of risk scores in grading cardiac catheterization procedures in pediatric patients and to investigate their predictive value for serious adverse events (SAEs). Material and Methods: A total of 700 pediatric patients (350 male; median age 1 year [IQR 6 months–2 years]) who underwent cardiac catheterization in our catheterization laboratory between 1 January 2023 and 1 January 2025 were retrospectively analyzed. Demographic and clinical data of the patients, including procedure duration, anesthesia management, Catheterization Risk in Pediatrics Score (CRISP), and serious adverse events related to the procedure, were recorded. The results were analyzed statistically. Results: In total, 50% of the patients were male (n = 350), and 58% (n = 406) had single-ventricle physiology. Interventional procedures were performed in 72% of the cases. The median CRISP score was 8 (IQR 6–10). SAEs occurred in 7.7% of the patients (n = 54), most of which were arrhythmia-related. The incidence of SAEs was analyzed according to CRISP score categories. The rates of SAEs in patients with CRISP Categories 1 through 5 were 2.9%, 4.3%, 11%, 17.3%, and 41%, respectively. As the CRISP score and category increased, the incidence of SAEs also increased [area under the curve of 0.84 (95% confidence interval, 0.76–0.92; p < 0.05)]. Conclusions: CRISP may serve as an effective benchmarking and risk classification tool in pediatric cardiac catheterization procedures and can predict SAE occurrence. Therefore, it may have a positive impact on patient care by assisting in the planning of pre- and post-catheterization care. Full article

Introduction: Advanced identification and intervention for Congenital Heart Defects (CHDs) in pediatric populations are crucial, as approximately 1% of neonates worldwide present with these conditions. Traditional methods of diagnosing CHDs often rely on stethoscope auscultation, which heavily depends on the clinician’s expertise and may lead to the oversight of subtle acoustic indicators. Objectives: This study introduces an innovative deep-learning framework designed for the early diagnosis of congenital heart disease. It utilizes time-series data obtained from cardiac auditory signals captured through stethoscopes. Methods: The audio signals were processed into time–frequency representations using Mel-Frequency Cepstral Coefficients (MFCCs). The architecture of the model combines Convolutional Neural Networks (CNNs) for effective feature extraction with Long Short-Term Memory (LSTM) networks to accurately model temporal dependencies. Impressively, the model achieved an accuracy of 98.91% in the early detection of CHDs. Results: While traditional diagnostic tools like Electrocardiograms (ECG) and Phonocardiograms (PCG) remain indispensable for confirming diagnoses, many AI studies have primarily targeted ECG and PCG datasets. This approach emphasizes the potential of cardiac acoustics for the early diagnosis of CHDs, which could lead to improved clinical outcomes for infants. Notably, the dataset used in this research is publicly available, enabling wider application and model training within the research community. Full article

Background/Objectives: First-trimester referral scans in high-risk pregnancies are performed by expert fetal medicine operators using an extended protocol that includes direct fetal heart assessment. This study evaluated inter-operator agreement in characterizing the four-chamber view (4CV) and three vessels and trachea view (3VTV) using color Doppler during such scans in both normal and abnormal cases. Methods: Two independent operators and a fetal cardiologist, all blinded to final diagnoses, retrospectively reviewed 2D images and video clips of the 4CV and 3VTV in 90 fetuses (45 with congenital heart disease [CHD] and 45 controls). The 4CV was classified into four patterns: (1) two atrioventricular (A-V) inflows of similar size, (2) one A-V inflow filling two ventricles, (3) one A-V inflow filling one ventricle, and (4) two A-V inflows with disproportion. The 3VTV was assessed for (1) normal V-sign, (2) abnormal vessel number, (3) abnormal vessel dimension, (4) abnormal spatial relationships, and (5) ductal dependence. Agreement was measured using Cohen’s Kappa. Results: Perfect agreement (K = 1) was seen in normal cases. In CHD cases, inter-operator and operator–cardiologist agreement was almost perfect for 4CV (K = 0.83–0.96) and substantial for 3VTV (K = 0.77–0.80). The lowest agreement occurred with ventricular disproportion in 4CV and abnormalities in vessel number and size in 3VTV. Conclusions: Expert operators show strong agreement in interpreting 4CV and 3VTV patterns in first-trimester scans using color Doppler. However, certain abnormalities—particularly ventricular disproportion and vessel anomalies—remain challenging to consistently interpret. Full article

Background and Objectives: Congenital heart defects (CHD) affect around 1% of the population, making them the most common congenital disease worldwide. Thanks to advances in treatment, over 90% of affected children are able to reach adulthood, shifting focus to long-term outcomes such as disease-specific quality of life (DsQoL). To date, there has been no validated, standardized instrument for assessing DsQoL in young German CHD patients. This study introduces the Congenital Heart Disease Specific Inventory (CHDSI), the first freely available German-language instrument for measuring DsQoL in children and adolescents with CHD. Materials and Methods: The CHDSI was developed at the German Heart Center Munich in collaboration with affected children and adolescents and validated nationwide via the National Register for Congenital Heart Defects (NRCHD) with 1201 participants (46 kindergarten children, 530 children, 625 adolescents). Two age-specific versions (36/37 items) and a 31-item preschool version were created, alongside a 6-item short form (CHDSI-SF) for rapid screening. Reliability was assessed using Cronbach’s alpha and split-half methods; construct validity via confirmatory factor analysis (CFA) using DWLS; and score interpretation through standardized stanine scales. The small sample size of kindergarten children precluded a model test for this group. The standard values given for this subsample should therefore be interpreted with caution. Results: The CHDSI showed excellent internal consistency (Cronbach’s α = 0.856 to 0.900) and high split-half reliability (>0.95). CFA confirmed a robust six-factor structure with excellent model fit (CFI and TLI ≥ 0.991, RMSEA ≤ 0.05). Subscales showed strong discriminant validity, and significant differences were found by CHD severity and sex. Conclusions: The CHDSI is a psychometrically valid, age-appropriate, and freely available instrument for assessing DsQoL in children and adolescents with CHD. It provides valuable support for clinical decision-making and research. Further studies should explore international validation and cultural adaptation. 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

Objectives: In the neonatal period, 25% of cases with critical congenital heart disease (CCHD) require surgical or interventional palliative and corrective procedures. Prenatal diagnosis and timely intervention can positively impact neonatal mortality and morbidity. This study evaluated the effects of perinatal follow-up on the management of CCHD. Methods: The study was conducted on term neonates diagnosed with CCHD, who were monitored in the neonatology and pediatric cardiac intensive care unit between 1 January 2023 and 1 January 2024. The cases were categorized into CCHD with prenatal follow-up (Group I), CCHD born without follow-up at our hospital (Group II), and CCHD accepted from external centers (Group III). Neonatal mortality and morbidity outcomes of these cases that underwent surgical or interventional procedures were statistically evaluated. Results: During the study period, there were 280 neonatal cases (50% male). Among these cases, 30% were in Group I (n = 84), 20% in Group II (n = 56), and 50% in Group III (n = 140). The cesarean section rate was higher in Group I compared to the other groups (80% vs. 52% vs. 45%), and the preoperative lactate levels were lower (0.9 vs. 1.7 vs. 2.1). The anatomical diagnoses, ventricular physiology, operation time, and interventional procedure time were similar. After interventional or surgical procedures, morbidity (22% vs. 25% vs. 36%) and mortality rates (6% vs. 9% vs. 18%) were lower in Group I and Group II compared to Group III. Conclusions: All infants diagnosed with CCHD before birth should be delivered in a tertiary heart center, which positively contributes to neonatal mortality and morbidity. More effort is needed to improve prenatal screening programs. Full article

Background: The incidence of pediatric venous thromboembolism (VTE) in Spain has not been well studied. Methods: Using an administrative database comprising nationwide data on hospital discharges, we estimated the annual crude, age-specific, and age-standardized incidence of pediatric VTE in Spain from 2016 to 2023. Time trends were analyzed using joinpoint regression. Risk factors, complications, and in-hospital mortality were also assessed. Results: A total of 6510 cases were identified, and 45.1% were women; the median age was 3 years (p25–p75: 0–13). The prevalence of cancer, intravascular device use, and chronic complex conditions decreased over the study period, while liver disease and surgery rates increased. COVID-19 emerged as a risk factor in the last four years. The presence of chronic conditions, congenital heart disease, and intravascular devices was significantly higher in neonates. Contraceptive use was observed only in adolescents. Overall incidence of VTE decreased from 2016 to 2018 (annual percent change, APC −10.1%, p = 0.234), but significantly increased from 2018 to 2023 (APC 7.9%, p = 0.018). The occurrence of hemorrhage significantly increased: 3.9% in 2016 vs. 6.5% in 2023 (p = 0.014). Bleeding risk increased with age (2.3% in <1 year vs. 7.4% in 15–18 years, p < 0.001). In-hospital mortality remained stable (2.41% in 2016 vs. 2.25% in 2023, p = 0.493). Mortality was higher in neonates (3.95%) and adolescents aged 15–18 years (3.05%) compared to other age groups (p < 0.001). Conclusions: The incidence of pediatric VTE in Spain has increased in recent years, while in-hospital mortality has remained stable. Full article

Congenital Heart Diseases (CHDs) are a heterogeneous group of structural abnormalities affecting the heart and major arteries, which are present in at least 1% of births worldwide. Studies have linked CHD to both genetic and environmental factors. In this regard, it has been demonstrated that changes in the epigenetic pattern impact the expression of key genes involved in proper cardiac development. Therefore, it is suggested that aberrant epigenetic mechanisms may contribute to the development of these pathologies. Here, we review and summarize the main epigenetic mechanisms involved in CHD. Moreover, cardiac development and the importance of the environment and CHD are also addressed. Full article

(1) Objective: Cardiovascular diseases (CVD) are one of the main entities responsible for the progressive increase in morbidity and mortality worldwide. Some of the biomarkers involved in these processes are matrix metalloproteases (MMPs) and disintegrants and metalloproteases (ADAMS), produced by multiple tissues and whose main function is the excessive degradation of the extracellular matrix (ECM). The aim of this study is to describe the existing literature on the role of MMP in the pathophysiology of CVD and its usefulness in clinical practice for the diagnostic and therapeutic approach. (2) Methods: A systematic exploratory review of the literature was carried out according to the guidelines of the Joanna Briggs Institute. The information was collected from the PubMed/Medline and Embase databases, using the search strategy “cardiovascular disease” AND “Metalloprotease”. (3) Results: Thirty eight papers that mainly mention 17 types of MMPs were included. Pathologies such as atherosclerosis, coagulation diseases, atrial fibrillation, ischemic heart disease, heart failure, hypertension, dyslipidemias, congenital cyanotic heart disease and Takotsubo cardiomyopathy were identified. (4) Conclusions: The stimulation or inhibition of these biomolecules could generate positive and/or negative effects, which impact the development and prognosis of the disease. Furthermore, they can be potential biomarkers for new diagnostic and even therapeutic approaches in the future. Full article