Search Results (599)

The image represents the post-mortem heart of a 28-year-old female patient, diagnosed in childhood with complete common atrioventricular canal defect. At time of diagnosis, the family refused surgery, as did the patient during her adulthood. Despite being advised against pregnancy, she became pregnant. On presentation to hospital, she was cyanotic, with clubbed fingers, and hemodynamically unstable, in sinus rhythm, with Eisenmenger syndrome and respiratory failure partially responsive to oxygen. During pregnancy, owing to systemic vasodilatation, the right-to-left shunt is increased, with more severe cyanosis and low cardiac output. Echocardiography revealed the complete common atrioventricular canal defect, with a single atrioventricular valve with severe regurgitation, right ventricular hypertrophy, pulmonary artery dilatation, severe pulmonary hypertension and a hypoplastic left ventricle. The gestational age at delivery was 38 weeks. She gave birth to a healthy boy, with an Apgar score of 10. The vaginal delivery was chosen by an interdisciplinary team. The cesarean delivery and the anesthesia were considered too risky compared to vaginal delivery. Three days later, the patient died. The autopsy revealed hepatomegaly, a greatly hypertrophied right ventricle with a purplish clot ascending the dilated pulmonary arteries and a hypoplastic left ventricle with a narrowed chamber. A single valve was observed between the atria and ventricles, making all four heart chambers communicate, also insufficiently developed interventricular septum and its congenital absence in the cranial third. These morphological changes indicate the complete common atrioventricular canal defect, with right ventricular dominance, which is a rare and impressive malformation that requires mandatory treatment in early childhood in order for the condition to be solved. Full article

Background: A detailed understanding of cardiac anatomy and physiology is crucial in cardiovascular medicine. However, traditional learning methods often fall short in addressing this complexity. Augmented reality (AR) offers a promising tool to enhance comprehension. To assess its potential integration into the Heidelberger Curriculum Medicinale (HeiCuMed), we conducted a needs assessment among medical students and lecturers at Heidelberg University Medical School. Methods: Our survey aimed to evaluate the perceived benefits of AR-based learning compared to conventional methods and to gather expectations regarding an AR course in cardiovascular medicine. Using LimeSurvey, we developed a questionnaire to assess participants’ prior AR experience, preferred learning methods, and interest in a proposed AR-based, 2 × 90-min in-person course. Results: A total of 101 students and 27 lecturers participated. Support for AR in small-group teaching was strong: 96.3% of students and 90.9% of lecturers saw value in a dedicated AR course. Both groups favored its application in anatomy, cardiac surgery, and internal medicine. Students prioritized congenital heart defects, coronary anomalies, and arrhythmias, while lecturers also emphasized invasive valve interventions. Conclusions: There is significant interest in AR-based teaching in cardiovascular education, suggesting its potential to complement and improve traditional methods in medical curricula. Further studies are needed to assess the potential benefits regarding learning outcomes. Full article

Hypoplastic or absent fetal nasal bone (NB) is a significant soft marker in the risk assessment for aneuploidies. This study aimed to evaluate prenatal findings and perinatal outcomes in fetuses with absent or hypoplastic NB managed at our center. This retrospective analysis was conducted at the Department of Obstetrics at the Medical University of Vienna and including all cases with an absent or hypoplastic fetal NB between 2004 and 2022. Clinical data were extracted and analyzed using descriptive statistics. A total of 149 cases were included. Of these, 51% had chromosomal abnormalities, with trisomy 21 present in 30.9%. Malformations were identified in 55% of cases, most commonly congenital heart defects (34.9%) and facial dysmorphism (28.9%). Eighteen fetuses (12.1%) had structural anomalies without genetic disorders. In 32.9% (n = 49), the NB anomaly was isolated. Our findings show that only half of the cases had chromosomal abnormalities, and over half of the pregnancies resulted in live births with generally favorable perinatal outcomes. However, the presence of additional ultrasound abnormalities significantly increased the risk of adverse outcomes. Therefore, detection of a fetal NB anomaly should prompt comprehensive ultrasound evaluation and genetic testing. Full article

Background and Objectives: Doppler abnormalities in the ductus venosus (DV) during the first trimester can serve as an early marker for the detection of congenital heart defects (CHDs), but the feasibility of systematically assessing the DV remains underexplored. This study aimed to evaluate the feasibility of performing DV assessments during routine first-trimester ultrasound screenings. Materials and Methods: A multicenter, prospective, and descriptive study was conducted, including singleton pregnancies undergoing routine ultrasound screening between 11 + 0 and 13 + 6 weeks of gestation. Sonographers were instructed to acquire DV Doppler images during the scan, and each image was blindly reviewed by an expert using predefined quality criteria. The images were categorized as “good”, “medium”, or “unsatisfactory”, and feasibility was defined as the proportion of “good” images. Factors associated with feasibility were analyzed, including sonographer satisfaction, the Herman score and the acquisition time. Results: Of the 87 patients included in this study, a suitable DV Doppler image was feasible in 58.6% of cases. The feasibility was significantly higher when the sonographer was satisfied with the image, when the Herman score exceeded seven (p = 0.01), and when the acquisition time was less than five minutes. A strong correlation was observed between the expert’s assessment and the sonographer’s satisfaction. However, the gestational age, maternal BMI, parity, and operator-perceived image quality were not significantly associated with feasibility. Conclusions: The Doppler assessment of the ductus venosus during first-trimester ultrasound screening is feasible and reproducible in routine clinical practice without significantly increasing the examination time. This suggests DV measurements to enhance the early nuchal translucency measurement to enhance the early detection of congenital heart defects during the first trimester. Full article

Miller–Dieker Syndrome (MDS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of approximately 26 genes within the MDS locus of human chromosome 17. MDS, which affects 1 in 100,000 babies, can lead to a range of phenotypes, including lissencephaly, severe neurological defects, distinctive facial abnormalities, cognitive impairments, seizures, growth retardation, and congenital heart and liver abnormalities. One hallmark feature of MDS is an unusually smooth brain surface due to abnormal neuronal migration during early brain development. Several genes located within the MDS locus have been implicated in the pathogenesis of MDS, including PAFAH1B1, YWHAE, CRK, and METTL16. These genes play a role in the molecular and cellular pathways that are vital for neuronal migration, the proper development of the cerebral cortex, and protein translation in MDS. Improved model systems, such as MDS patient-derived organoids and multi-omics analyses indicate that WNT/β-catenin signaling, calcium signaling, S-adenosyl methionine (SAM) homeostasis, mammalian target of rapamycin (mTOR) signaling, Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling, and others are dysfunctional in MDS. This review of MDS integrates details at the clinical level alongside newly emerging details at the molecular and cellular levels, which may inform the development of novel therapeutic strategies for MDS. Full article

Background: Down syndrome (DS) is associated with unique anatomical and physiological characteristics that complicate the perioperative management of infants undergoing cardiac surgery. While ventricular septal defect (VSD) repair is commonly performed in this population, detailed data comparing perioperative outcomes in DS versus non-syndromic infants remain limited. Methods: This retrospective matched study analysed 100 infants (50 with DS and 50 without DS) who underwent isolated VSD closure between January 2021 and January 2025. Patients were matched by age and surgical date. Intraoperative anesthetic management, complications, postoperative outcomes, and mortality were compared between groups. Results: DS patients had lower age, weight, and height at surgery. They required significantly smaller endotracheal tube sizes, more intubation and vascular access attempts. The DS group had significantly lower rates of extubation in the operating room and experienced longer durations of mechanical ventilation and ICU stay. However, no significant differences were observed in total hospital stay or mortality between groups. Conclusions: Although DS infants present with increased anesthetic complexity and respiratory challenges, they do not exhibit higher surgical mortality following isolated VSD closure. Tailored perioperative strategies may improve respiratory outcomes in this high-risk group. 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

Fetal alcohol spectrum disorder (FASD) is a preventable cause of developmental disabilities linked to prenatal alcohol exposure (PAE). Congenital heart defects (CHDs) are frequently observed in FASD, with a notable association between PAE and dextro-type transposition of the great arteries (d-TGA). A potential pathogenetic mechanism of d-TGA in FASD, involving retinoic acid (RA) deficiency due to the interference of ethanol with RA biosynthesis, is proposed. Further investigation is required to understand the timing and impact of alcohol exposure on congenital anomalies, particularly in the context of CHDs. Full article

Background/Objectives: Neurodevelopmental disorders (NDDs) represent a clinically diverse group of conditions that affect brain development, often leading to varying degrees of functional impairment. Many NDDs, particularly syndromic forms, are caused by genetic mutations affecting critical cellular pathways. Ribosomopathies, a subgroup of NDDs, are linked to defects in ribosomal function, including those involving the synthesis of diphthamide, a post-translational modification of translation elongation factor 2 (eEF2). Loss-of-function (LoF) mutations in genes involved in diphthamide biosynthesis, such as DPH1, DPH2, and DPH5, result in developmental delay (DD), intellectual disability (ID), and multisystemic abnormalities. DPH5-related diphthamide deficiency syndrome has recently been reported as an ultrarare disorder linked to LoF mutations in DPH5, encoding a methyltransferase required for diphthamide synthesis. Methods: Clinical, neurological, and dysmorphological evaluations were performed by a multidisciplinary team. Brain MRI was acquired on a 3T scanner. Craniofacial abnormalities were assessed using the GestaltMatcher phenotyping tool. Whole exome sequencing (WES) was conducted on leukocyte-derived DNA with a trio-based approach. Bioinformatic analyses included variant annotation, filtering, and pathogenicity prediction using established databases and tools. Results: The affected subject carried a previously reported missense change, p.His260Arg, suggesting the occurrence of genotype–phenotype correlations and a hypomorphic behavior of the variant, likely explaining the overall milder phenotype compared to the previously reported patients with DPH5-related diphthamide deficiency syndrome. Conclusions: Overall, the co-occurrence of short stature, relative macrocephaly, congenital heart defects, variable DD/ID, minor skeletal and ectodermal features, and consistent craniofacial features suggests a differential diagnosis with Noonan syndrome and related phenotypes. Full article

Background: Congenital heart disease (CHD) affects approximately 9 per 1000 live births worldwide, with increasing prevalence due to improved survival. Today, over 90% of individuals with CHD reach adulthood, resulting in a growing population of adults with congenital heart disease (ACHD). Despite its clinical relevance, iron deficiency (ID) and anemia have been insufficiently studied in this group. Objectives: To evaluate the prevalence and clinical impact of iron deficiency and anemia in ACHD, particularly their relationship with exercise capacity. Methods: We retrospectively analyzed 310 ACHD patients at University Hospital Düsseldorf between January 2017 and January 2019. Iron status was assessed using serum ferritin, transferrin saturation (TSAT), and hemoglobin levels. Exercise capacity was measured by cardiopulmonary exercise testing (VO₂ max). Prevalence and clinical associations were compared with those reported in heart failure populations, using ESC guideline criteria. Analyses were adjusted for age, sex, and defect complexity. Results: Iron deficiency (ID) was present in 183 patients (59.0%). Anemia was observed in 13 patients (4.2%), with 6 (46.2%) classified as microcytic and 5 (38.5%) as normocytic. Reduced exercise capacity, defined as VO₂ max <80% of predicted, was present in 51 patients (16.5%), occurring more frequently in those with complex CHD (31.3% vs. 11.3%, p < 0.001). ID was associated with a trend toward lower VO₂ max (21.3 vs. 23.5 mL/min/kg, p = 0.068), while anemia correlated with significantly reduced performance (19.8 ± 4.1 vs. 22.9 ± 6.3 mL/min/kg, p = 0.041). Conclusions: Iron deficiency is highly prevalent, and anemia—though less common—was consistently associated with reduced functional capacity in ACHD. These findings highlight the need for targeted screening and management strategies in this growing patient population. Full article

Background: Heart failure in pediatric patients remains a major cause of morbidity and mortality, often associated with congenital heart defects and cardiomyopathies. Mechanical circulatory support (MCS) devices have emerged as critical therapeutic options, particularly as bridges to transplantation or recovery. The complexity of their use in children necessitates highly specialized solutions. This study aimed to evaluate the quality and performance of selected connection technologies between prosthetic vascular grafts and the outflow cannula of the Religa Heart PED^® pediatric pulsatile pump, with a focus on tightness, surface smoothness, and structural integrity. Methods: Mechanical testing was conducted on various connection types, including static tensile strength and long-term durability under pulsatile flow conditions with biological fluid analogs. Macro and microscopic evaluations assessed the surface quality and potential thrombogenic risks, biological testing encompassed permeability analysis in static and dynamic settings, and hemocompatibility was determined by acute thrombogenicity. Additionally, in vivo observations in a large animal model were used for final qualitative validation. Results: All connection types demonstrated sufficient mechanical strength, with no structural degradation or leakage observed in any samples following long-term testing. Thrombus formation was absent in adhesive connections with Dacron and polytetrafluoroethylene (PTFE) grafts but was observed in the mechanical connection with the PTFE prosthesis. In addition, in vivo studies confirmed the tightness, hemocompatibility, and mechanical stability of the adhesive connection with the Dacron prosthesis. Conclusions: The adhesive connection between the outflow cannula and a Dacron prosthesis demonstrated superior mechanical and biological performance, including resistance to thrombogenesis and hemolysis, as well as stable integration under in vivo conditions. This solution shows high potential for safe application in the Religa Heart PED^® system. Full article

Background: The PATHFINDER-CHD Registry is a prospective, multicenter, non-interventional registry across tertiary care centers in Germany. The aim is to analyze real-world data on adults with congenital heart defects (ACHD) or hereditary connective tissue disorders who have manifest heart failure (HF), a history of HF, or are at significant risk of developing HF. This analysis investigates the prevalence and clinical impact of overweight and obesity in this unique population. Methods: As of 1st February, 2025, a total of 1490 ACHD had been enrolled. The mean age was 39.4 ± 12.4 years, and 47.9% were female. Patients were categorized according to Perloff’s functional class and the Munich Heart Failure Classification for Congenital Heart Disease (MUC-HF-Class). Results: The most common congenital heart disease (CHD) in this cohort was Tetralogy of Fallot, transposition of the great arteries, and congenital aortic valve disease. Marfan syndrome was the most common hereditary connective tissue disease. Of the patients, 46.1% were classified as overweight (32.8%) or obese (13.3%), while 4.8% were underweight. The highest prevalence of overweight (47.1%) was observed among patients who had undergone palliative surgery, whereas untreated patients showed the highest proportion of normal weight (57.2%). Cyanotic patients were predominantly of normal weight. Patients with univentricular circulation exhibited significantly lower rates of overweight and obesity (35%; p = 0.001). Overweight and obesity were statistically significantly associated with arterial hypertension, diabetes mellitus, and sleep apnea (all p < 0.001). High BMI was linked to increased use of HF-specific medications, including SGLT2 inhibitors (p = 0.040), diuretics (p = 0.014), and angiotensin receptor blockers (p = 0.005). Conclusions: The data highlight the clinical relevance of overweight and obesity in ACHD with HF, emphasizing the need for individualized prevention and treatment strategies. The registry serves as a critical foundation for the optimization of long-term care in this population. Full article

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

Background/Objectives: Heart failure (HF) poses a major challenge in managing adults with congenital heart defects (ACHD). Emerging evidence suggests that HF in ACHD increases the risk of underweight due to heightened metabolic demands, gastrointestinal complications, and psychological factors such as anxiety and depression. Despite its critical implications, few studies have examined this association. This study evaluates the relationship between HF and underweight—defined as a body mass index (BMI) < 18.5—in ACHD. Methods: The Pathfinder-CHD Registry is a prospective, observational, web-based HF registry including ACHD with manifest HF, history of HF, or significant risk for HF. It documents congenital diagnoses, HF type, comorbidities, and treatments. Patients were categorized by BMI into mild (17.00–18.49), moderate (16.00–16.99), and severe (<16.00) underweight. Results: As of September 2024, the registry enrolled 1420 adults (mean age 31.8±11.3 years; 49.2% female). Underweight was present in 59 patients (4.2%): 62.7% mild, 18.6% moderate, and 18.6% severe. Among the remaining 1361 patients, 52.8% had normal weight, 32.8% were overweight, and 14.2% were obese. Women had significantly lower metabolic body weight than men (p = 0.002). Underweight correlated with younger age (p < 0.001) and CHD type (p = 0.02). Notably, 42.9% of underweight patients had cyanotic CHD. Conclusions: Underweight is an underrecognized problem in ACHD with HF. Adults with complex CHD or connective tissue disorders are disproportionately affected. Underweight should be seen as an alarm sign requiring personalized, multidisciplinary management, including nutritional support, tailored therapy, and close monitoring to improve outcomes. Full article

Improved medical treatments have extended survival and life expectancy in adults with congenital heart defects (ACHD), placing greater emphasis on psychosocial health. Up to one-third of ACHD experience anxiety or depression, and half develop a mental illness during their lifetime. While there is solid evidence on the prevalence of mental health, many do not receive psychological, psychotherapeutic, or psychiatric treatment (PST) and the psychological care situation remains understudied. In a nationwide, online cross-sectional survey conducted in Q1 2024, 1486 ACHD aged 18 to 85 (M_age = 36.84 years; 60.8% female) registered in the German National Register for Congenital Heart Defects (NRCHD) completed self-report questionnaires on sociodemographics, illness identity (Illness Identity Questionnaire), mental well-being, and utilisation of PST. CHD diagnoses were determined in conformity with the International Pediatric and Congenital Cardiac Code (IPCCC) and CHD was classified according to Warnes et al. (simple/moderate/complex). Analyses included chi-square tests, t-tests, and binary logistic regression. Overall, 32.8% of participants reported current and/or previous PST (women 37.5%, men 25.3%). PST utilisation was significantly higher in those with complex (40.2%) compared to moderate (29.6%) and simple CHD (25.3%) (ps < 0.01). Primary treatment reasons were mental illness (41.7%) and CHD-related concerns (37.2%). Nearly half of treatments were self-initiated (45.8%) and about one-third were physician-recommended (30.8%). Logistic regression revealed CHD severity as a significant predictor of PST use (ps < 0.05), with lower odds for simple (OR = 0.48) and moderate (OR = 0.66) compared to complex CHD when controlling for sex (p < 0.001, OR = 1.87), age (p = 0.022, OR = 1.011), education level (ps between 0.060 and 0.780), and net income (ps < 0.05). Those receiving PST showed significantly higher maladaptive illness-identity scores (engulfment, rejection) and lower acceptance. Approximately one in three ACHD requires mental health support, particularly those with complex CHD. The CHD itself acts as a key stressor and treatment motivator. Findings underscore the need for integrated care linking cardiological and psychosocial services. Routine screening for psychological distress and low-threshold access to PST—also for patients with simple and moderate CHD—are essential to identify and address mental health needs early. Full article