Adults with congenital heart disease (CHD) face a unique set of medical, psychological, and social challenges, and access to specialised adult congenital heart disease care has been associated with improved outcomes. Rural adults with CHD may represent a uniquely disadvantaged group given additional challenges when accessing specialised care. The aim of this study was to investigate the challenges faced by adults with CHD in accessing outpatient cardiac care, with a specific focus on understanding differences between urban- and rural-dwelling patients.

This cross-sectional, survey-based study took place in the adult congenital heart disease clinic at an urban academic medical center. Additional medical information was abstracted in a retrospective manner from the electronic health record. In addition to descriptive statistics, t-tests and Chi-square tests were performed to investigate differences between urban and rural dwelling patients.

A total of 100 patients participated in the study (mean age 40 ± 13 years, 60% female, 18% rural dwelling). Across the total sample, the median driving distance to clinic was 20 miles (interquartile range 12–77); it was 15 miles for urban dwellers and 77 miles for rural dwelling patients (p < 0.001). The most commonly identified barriers to cardiac clinic visits were financial losses related to taking time off from work (39%), distance of clinic from home (33%), and weather (33%). Compared to urban dwelling patients, on average those who were rural dwelling had a lower level of education (p = 0.04), more difficulty paying insurance premiums (p < 0.001) and copays (p = 0.005), and were more likely to identify the distance from clinic (p = 0.05) and having to go into the city (p = 0.02) as barriers to clinic appointments.

The financial impact and distance to clinic were the most commonly identified barriers to outpatient cardiac care in this cohort of adults with CHD. These barriers, along with difficulty paying insurance premiums, are more common in rural dwelling patients. Initiatives such as telemedicine visits or providing financial subsidies for travel and treatment could help to expand specialty adult congenital heart disease care and better serve this growing patient population.

Hypoplastic left heart syndrome and single ventricle variants with aortic hypoplasia are commonly classified as severe forms of CHD. We hypothesised patients with these severe defects and reported genetic abnormalities have increased morbidity and mortality during the interstage period.

This was a retrospective review of the National Pediatric Cardiology Quality Improvement Collaborative Phase I registry. Three patient groups were identified: major syndromes, other genetic abnormalities, and no reported genetic abnormality. Tukey post hoc test was applied for pairwise group comparisons of length of stay, death, and combined outcome of death, not a candidate for stage 2 palliation, and heart transplant. Participating centres received a survey to establish genetic testing and reporting practices. Of the 2182 patients, 110 (5%) had major genetic syndromes, 126 (6%) had other genetic abnormalities, and 1946 (89%) had no genetic abnormality. Those with major genetic syndromes weighed less at birth and stage 1 palliation. Patients with no reported genetic abnormalities reached full oral feeds sooner and discharged earlier. The combined outcome of death, not a candidate for stage 2 palliation, and heart transplant was more common in those with major syndromes. Survey response was low (n = 23, 38%) with only 14 (61%) routinely performing and reporting genetic testing.

Patients with genetic abnormalities experienced greater morbidity and mortality during the interstage period than those with no reported genetic abnormalities. Genetic testing and reporting practices vary significantly between participating centres.

Aortic valve repair in children is still a challenge. The aim of this study was to analyse the surgical results of children with aortic regurgitation who underwent single leaflet reconstruction using the Ozaki procedure in our medical centre.

A retrospective study was conducted of nine children with aortic regurgitation who received single leaflet reconstruction from May 2017 to September 2019. Paired t-tests and Wilcoxon signed rank tests were used to compare the data at different time points.

The median surgical age was 4.7 (3.5, 6.4) years. Eight patients were pre-operatively diagnosed with severe aortic regurgitation, while one had moderate regurgitation. The left ventricles were significantly enlarged, with an average z-score of 3.8. Single leaflet reconstruction was carried out using glutaraldehyde-treated autologous pericardium under the standard Ozaki procedure. The median follow-up was 22 (14, 33) months. There was no post-operative death or re-intervention. One patient had moderate or more aortic regurgitation during the follow-up. The average degree of aortic regurgitation was mild, and the average z-score of the left ventricle decreased to −0.2 in the last follow-up.

Single leaflet reconstruction using the Ozaki procedure was an effective surgical method for treating children with aortic regurgitation in our centre with satisfactory short-term results.

During tetralogy of Fallot repair, leaving or even create an interatrial communication may facilitate post-operative course particularly with right ventricle restrictive physiology. The aim of our study is to assess the influence of atrial communication on post-operative course of tetralogy of Fallot repair.

Retrospectively, we studied all children who had tetralogy of Fallot repair (2003–2018). We divided them into two groups: tetralogy of Fallot repair with interatrial communication (TOFASD) group and tetralogy of Fallot repair with intact atrial septum (TOFIAS) group. We performed propensity match score for specific pre- or intra-operative variables and compared groups for post-operative outcome variables. Secondarily, we looked for right ventricle restrictive physiology incidence and influence of early repair performed before 3 months of age on post-operative course.

One hundred and sixty children underwent tetralogy of Fallot repair including (93) cases of TOFIAS (58%) and (67) cases of TOFASD (42%). With propensity matching score, 52 patients from each group were compared. Post-operative course was indifferent in term of positive pressure ventilation time, vasoactive inotropic score, creatinine and lactic acid levels, duration and amount of chest drainage and length of intensive care unit and hospital stay. Right ventricle restrictive physiology occurred in 38% of patients with no effects on outcome. 12/104 patients (12%) with early repair needed longer pressure ventilation time (p = 0.003) and intensive care unit stay (p = 0.02).

Leaving interatrial communication in tetralogy of Fallot repair did not affect post-operative course. As well, right ventricle restrictive physiology did not affect post-operative course. Infants undergoing early tetralogy of Fallot repair may require longer duration of positive pressure ventilation time and intensive care unit stay.

We present our experience and outcomes with the BeGraft in the treatment of aortic coarctation in a predominantly paediatric population.

This study includes a retrospective analysis of patients who had Begraft aortic stent implantation between 2018 and 2020 from a single centre.

The BeGraft aortic stent was used in 11 patients (7 males, 4 females) with a median age of 14 (13–21) years and a median weight of 65 (46–103) kg. Coarctation was native in five patients and recurrent in six patients. Median stent diameter and length were 16 mm and 38 mm, respectively. The median peak-to-peak pressure was 30 (12–55) mmHg before the procedure and 5 (0–17) mmHg after the procedure. The stenting procedure was successful in 10 of the 11 patients. Stent migration to the abdominal aorta occurred on post-procedure day 1 in the 21-year-old patient, who had previously undergone surgical closure of the ventricular septal defect and balloon angioplasty for coarctation. After repositioning failed, the stent was safely fixed in the abdominal aorta. Strut distortion also occurred during balloon retrieval in one patient, but no aneurysm or in-stent restenosis was observed at 1-year follow-up. The patients were followed for a median of 14 (4–25) months and none required redilation.

Our initial results demonstrated that the BeGraft aortic stent effectively reduced the pressure gradient in selected native and recurrent cases. Despite advantages such as a smaller sheath and low profile, more experience and medium- to long-term results are needed.

The aim of this retrospective cohort study was to determine the incidence, potential risk factors, characteristics, and outcomes of acute kidney injury in children following the arterial switch operation for transposition of the great arteries.

Retrospective review of children who underwent ASO between 2000 and 2020 in our tertiary children’s hospital in the Netherlands. Pre-and post-ASO serum creatinine levels were collected. Severe AKI was defined as 100% serum creatinine rise or estimated creatinine clearance <35 ml/min/1.73 m2 according to pRIFLE criteria. Logistic regression was used to adjust for confounders.

A total of 242 children were included. Fifty-seven (24%) children developed severe AKI after ASO. Four patients with severe AKI were treated with renal replacement therapy. Children with severe AKI had a longer duration of mechanical ventilation 4.5 (1.0–29) versus 3 (1.0–12) days (p = 0.001), longer PICU stay 7 (2–76) versus 5 (1–70) days, (p = 0.001), higher rate of myocardial infarction 5% versus 0.5% (p = 0.001), sepsis 24% versus 9% (p = 0.002), post-operative pulmonary hypertension 19% versus 6% (p = 0.002), post-operative bleeding 9% versus 3% (p = 0.044), longer time to sternal closure 3 (1–19) versus 2 (1–6) days, (p = 0.009), and a higher mortality rate 9.0% versus 0.5% (p = 0.001) compared to children without severe AKI. Sepsis was a risk factor for developing severe AKI.

In this single-centre cohort, 24% of our patients developed severe AKI after ASO, which is associated with increased morbidity, longer PICU stay, and higher mortality.

Adult patients diagnosed with type 1 diabetes mellitus are at risk for ventricular arrhythmias and sudden cardiac death.

The objective of our study is to evaluate the electrocardiographic data of children diagnosed with type 1 diabetes mellitus and to determine the possibility of arrhythmia in order to prevent sudden death.

Electrocardiographic data of 60 patients diagnosed with type 1 diabetes mellitus and 86 controls, who were compatible with the patient group in terms of age and gender, were compared.

The duration of diabetes in our patients with type 1 diabetes mellitus was 5.23 ± 1.76 years, and the haemoglobin A1c levels were 9.63% ± 1.75%. The heart rate, QRS, QT maximum, QT dispersion, QTc minimum, QTc maximum, QTc dispersion, Tp-e maximum, Tp-e maximum/QTc maximum and the JTc were significantly higher compared to the control group. There was no significant correlation between the duration of type 1 diabetes mellitus and HbA1c levels and the electrocardiographic data.

We attributed the lack of a significant correlation between the duration of type 1 diabetes mellitus and the haemoglobin A1c levels and the electrocardiographic data to the fact that the duration of diabetes was short, since our patients were children. We believe that patients with type 1 diabetes mellitus should be followed up closely in terms of sudden death, as they have electrocardiographic changes that may cause arrhythmias compared to the control group. However, more studies with longer follow-up periods are necessary to support our data.

Children with CHD are at increased risk for neurodevelopmental impairments. There is little information on long-term motor function and its association with behaviour.

To assess motor function and behaviour in a cohort of 10-year-old children with CHD after cardiopulmonary bypass surgery.

Motor performance and movement quality were examined in 129 children with CHD using the Zurich Neuromotor Assessment providing four timed and one qualitative component, and a total timed motor score was created based on the four timed components. The Beery Test of Visual–Motor Integration and the Strengths and Difficulties Questionnaire were administered.

All Zurich Neuromotor Assessment motor tasks were below normative values (all p ≤ 0.001), and the prevalence of poor motor performance (≤10th percentile) ranged from 22.2% to 61.3% in the different components. Visuomotor integration and motor coordination were poorer compared to norms (all p ≤ 0.001). 14% of all analysed children had motor therapy at the age of 10 years. Children with a total motor score ≤10th percentile showed more internalising (p = 0.002) and externalising (p = 0.028) behavioural problems.

School-aged children with CHD show impairments in a variety of motor domains which are related to behavioural problems. Our findings emphasise that motor problems can persist into school-age and require detailed assessment and support.

Salih myopathy, characterised by both congenital myopathy and fatal dilated cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles. TTN has been identified as the main cause of this myopathy, the enormous size of this gene poses a formidable challenge to molecular genetic diagnostics.

In the present study, whole-exome sequencing, cardiac MRI, and metabolic parameter assessment were performed to investigate the genetic causes of Salih myopathy in a consanguineous Iranian family who presented with titinopathy involving both skeletal and heart muscles in an autosomal recessive inheritance pattern.

Two missense variants of TTN gene (NM_001267550.2), namely c.61280A>C (p. Gln20427Pro) and c.54970G>A (p. Gly18324Ser), were detected and segregations were confirmed by polymerase chain reaction-based Sanger sequencing.

The compound heterozygous variants, c.61280A>C, (p. Gln20427Pro) and c.54970G>A, (p. Gly18324Ser) in the TTN gene appear to be the cause of Salih myopathy and dilated cardiomyopathy in the family presented. Whole-exome sequencing is an effective molecular diagnostic tool to identify the causative genetic variants of large genes such as TTN.

Equal to COVID-19 patients, non-COVID-19 patients are affected by the medical and social drawbacks of the COVID-19 pandemic. A significant reduction in elective life-changing surgeries has been witnessed in almost all affected countries. This study discusses an applicable and effective pre-operative assessment protocol that can be applied during the COVID-19 era.

Our study is a descriptive retrospective observational study that involves children with CHD requiring open-heart surgeries at our tertiary care centre between March and November, 2020. We reviewed the charts of eligible patients aged 18 years and below. We identified the total numbers of scheduled, performed, and postponed surgeries, respectively. A thorough description of the clinical and physical presentation of the postponed cases, who tested positive for SARS-CoV-2, is provided.

Sixty-eight open-heart surgeries were scheduled at our centre between March and November, 2020. Three surgeries (4%) were postponed due to COVID-19. The three patients were asymptomatic COVID-19 cases detected on routine SARS-CoV-2 polymerase chain reaction testing. No symptoms of cough, chest pain, dyspnea, rhinorrhea, diarrhea, abdominal pain, anosmia, and ageusia were reported by our patients. All patients were afebrile and hemodynamically stable. Owing to the pre-operative assessment protocol that was implemented after the first case was detected, only three healthcare workers were at risk of COVID-19 transmission and were imposed to infectious evaluation and home quarantine.

Adopting our discussed preoperative COVID-19 assessment protocol for CHD patients is an effective method to detect COVID-19 infections, optimise patient care, and ensure healthcare workers’ safety.

Cardiopulmonary resuscitation (CPR) in the shunted single-ventricle population is associated with poor outcomes. Interposed abdominal compression-cardiopulmonary resuscitation, or IAC-CPR, is an adjunct to standard CPR in which pressure is applied to the abdomen during the recoil phase of chest compressions.

A lumped parameter model that represents heart chambers and blood vessels as resistors and capacitors was used to simulate blood flow in both Blalock-Taussig-Thomas and Sano circulations. For standard CPR, a prescribed external pressure waveform was applied to the heart chambers and great vessels to simulate chest compressions. IAC-CPR was modelled by adding phasic compression pressure to the abdominal aorta. Differential equations for the model were solved by a Runge-Kutta method.

In the Blalock-Taussig-Thomas model, mean pulmonary blood flow during IAC-CPR was 30% higher than during standard CPR; cardiac output increased 21%, diastolic blood pressure 16%, systolic blood pressure 8%, coronary perfusion pressure 17%, and coronary blood flow 17%. In the Sano model, pulmonary blood flow during IAC-CPR increased 150%, whereas cardiac output was improved by 13%, diastolic blood pressure 18%, systolic blood pressure 8%, coronary perfusion pressure 15%, and coronary blood flow 14%.

In this model, IAC-CPR confers significant advantage over standard CPR with respect to pulmonary blood flow, cardiac output, blood pressure, coronary perfusion pressure, and coronary blood flow. These results support the notion that single-ventricle paediatric patients may benefit from adjunctive resuscitation techniques, and underscores the need for an in-vivo trial of IAC-CPR in children.

Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy.

The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children.

This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing.

Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients.

The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.

We investigated the risk of increased nosocomial infections and the associated pathogens in patients who underwent paediatric cardiovascular surgery and were put on extracorporeal membrane oxygenation support. We studied the duration of extracorporeal membrane oxygenation use and other variables that may be associated with increased nosocomial infection risk.

Patients who were treated with an extracorporeal membrane oxygenation in paediatric cardiovascular surgery ICU between 2010 and 2020 were included in this retrospective study. We analysed the site of infection and microbiological profile of infections occurring in these patients according to CDC and National Healthcare Safety Network criteria.

The onset of infection development in patients after extracorporeal membrane oxygenation was found to be median 8 (3–15, 25–75 IQR) days in the whole group, and median 11 (3–16, 25–75 IQR) days in those who developed infection without being put on extracorporeal membrane oxygenation. When patients were divided into those with and without infection, duration of ICU was found to be 19 (16–28, IQR 25–75) days in patients with infection vs. 8 (2–16, IQR 25–75; p: <0.001) days in patients without infection. Duration of extracorporeal membrane oxygenation support was found to be 14 (10–25, IQR 25–75) days in patients with infection versus 5 (2–10, IQR 25–75; p: <0.001) days in patients without infection and total hospital stay was 26 (18–33, IQR 25–75) days in patients with infection versus 8 (2–23, IQR 25–75) days in those without infection. A total of 24 patients out of the 70 patients experienced 32 infectious episodes during extracorporeal membrane oxygenation support. Culture-positive infections were detected at a single site in 19 patients, and multiple sites in 5 patients.

We propose that prolonged extracorporeal membrane oxygenation support is associated with an increased risk of infection. Although extracorporeal membrane oxygenation is a life-saving treatment method, prolonged extracorporeal membrane oxygenation may increase the development of infectious complications and the associated mortality and morbidity of the patient.

Although coronary artery bypass grafting is not frequently performed in children, Kawasaki disease is one of the most common indications for coronary artery bypass grafting in children. Here, we reviewed the long-term clinical outcomes including graft patency after coronary artery bypass grafting.

Between March 2004 and March 2013, six patients with Kawasaki disease underwent coronary artery bypass grafting. All patients were male. Their median age was 13.0 years (interquartile range, 7.8–17.8 years) at the timing of coronary artery bypass grafting, and the median age at the onset of Kawasaki disease was 3.3 years (interquartile range, 1.0–7.0 years). Four patients presented with multiple lesions including aneurysms.

The median follow-up duration was 12.1 years (interquartile range, 9.5–13.1 years), and there were no operative complications or overall mortality. One patient had pre-operative symptoms such as exertional chest pain and dyspnoea on exertion, whereas one patient had ventricular tachyarrhythmia. There was an improvement in subjective symptoms after surgery in two patients. The left internal thoracic artery, right internal thoracic artery, and saphenous vein were used in five (83.3%), one (16.7%), and two (33.3%) cases, respectively. In all six patients, post-operative single-photon emission CT findings showed improved perfusion compared with pre-operative single-photon emission CT. All grafts were patent as confirmed by coronary angiography or CT angiography.

Coronary artery bypass grafting could be a good surgical option in children with coronary lesions caused by Kawasaki disease in terms of graft patency and myocardial perfusion.

Telemedicine gained an increasing use throughout the last years. Lifestyle tools like the Apple watch seem to have an increasing spread even in remote areas and underdeveloped regions. The increasing availability of these tools offers the chance to use the health care functions of these devices to improve provision of professional medical care. First data on the use of the Apple Watch as a remote monitoring device in children have been reported, showing good acceptability and usability of the Apple Watch for symptom monitoring in children. This study aimed to evaluate the accuracy of the Apple Watch iECG in comparison to a standard 12-lead ECG in pre-term babies.

In this prospective, single-arm study, consecutive preterm neonates hospitalised in Leipzig University Hospital neonatal ICU were eligible. A 12-lead ECG and an iECG using Apple Watch 4 were performed. iECG and 12-lead ECG measurements were performed by a paediatric cardiologist. Cardiac rhythm was classified and amplitudes and timing intervals were analysed for comparability.

Fifty preterm neonates, gestational week (23–36 weeks), and body weight (0.65–3.09 kg) were enrolled. Overall good quality and excellent correlation of the Apple Watch generated iECG in comparison to the standard 12-lead ECG could be demonstrated (p < 0.001). When interpreted by a paediatric cardiologist, a correct rhythm classification could be done in 100% of cases.

The Apple Watch iECG seems to be a valuable tool to record an ECG comparable to lead I of the standard 12-lead ECG even in pre-term neonates. With a widespread availability and excellent connectivity, the Apple Watch iECG function may provide practitioners with a tool to send an iECG for interpretation to a paediatric cardiac specialist.

Prenatal maternal stress is associated with adverse offspring outcomes, which may be mediated by maternal stress hormones. However, evidence supporting the association between maternal stress and cortisol levels in high-risk pregnancies is limited. This study aims to determine the relationship between self-reported maternal mental distress and maternal salivary cortisol levels in pregnancies complicated by foetal CHD compared with healthy pregnancies.

We recruited women with pregnancies complicated by foetal CHD and healthy pregnancies. Maternal saliva was collected between 22 and 40 gestational weeks. Standardized questionnaires measuring stress, depression, and anxiety were completed by patients. Generalized estimating equation was used to evaluate associations between maternal mental distress scales and cortisol levels.

We studied 165 women (55 CHD, 110 controls) and collected 504 cortisol samples (160 CHD, 344 controls). Women carrying CHD foetuses had higher stress, anxiety, and depression scores compared to women carrying healthy foetuses. However, maternal cortisol levels did not significantly differ in CHD and controls. Cortisol levels were higher in women carrying foetuses with functionally single-ventricle versus two-ventricle CHD. In both CHD and controls, there was no significant association between maternal stress, depression or anxiety scores and cortisol levels.

Our data suggest that self-reported maternal stress, anxiety, and depression are not associated with maternal salivary cortisol levels in CHD and healthy pregnancies. The impact of maternal mental distress on foetal health may be through other mediating pathways other than maternal cortisol concentrations.

Copy number variations were detected in the array comparative genomic hybridisation analysis of five (13.5%) of 37 patients included in the study. Three candidate genes (PRDM16, HIST1H1E, GJA5) found in these deletion and duplication regions may be associated with the conotruncal cardiac anomaly.

CHDs can be encountered as the first and sometimes the single finding of many genetic disorders in children. It is thought that genetic tests, especially array comparative genomic hybridisation, may be beneficial for children with CHD since the diagnosis of genetic diseases in these patients as early as possible will help to prevent or reduce complications that may develop in the future. Also, it would be possible to detect candidate genes responsible for conotruncal cardiac anomalies with array comparative genomic hybridisation.

The aim of this study is to evaluate clinical and surgical outcomes of children with subaortic stenosis, to determine the risk factors for surgery and reoperation and to compare isolated subaortic stenosis and those concomitant with CHDs.

The study involved 80 children with subaortic stenosis. The patients were first classified as isolated and CHD group, and the isolated group was further classified as membranous/fibromuscular group. The initial, pre-operative, post-operative and the most recent echocardiographic data, demographic properties and follow-up results of the groups were analysed and compared. The correlation of echocardiographic parameters with surgery and reoperation was evaluated.

There was a significant male predominance in all groups. The frequency of the membranous type was higher than the fibromuscular type in the whole and the CHD group. The median time to the first operation was 4.6 years. Thirty-five (43.7%) patients underwent surgery, 5 of 35 (14%) patients required reoperation. The rate of surgery was similar between groups, but reoperation was significantly higher in the isolated group. The gradient was the most important factor for surgery and reoperation in both groups. In the isolated group besides gradient, mitral-aortic separation was the only echocardiographic parameter correlated with surgery and reoperation.

Reoperation is higher in isolated subaortic stenosis but similar in membranous and fibromuscular types. Early surgery may be beneficial in preventing aortic insufficiency but does not affect the rate of reoperation. Higher initial gradients are associated with adverse outcomes, recurrence and reoperation.