Increased risk donors in paediatric heart transplantation have characteristics that may increase the risk of infectious disease transmission despite negative serologic testing. However, the risk of disease transmission is low, and refusing an IRD offer may increase waitlist mortality. We sought to determine the risks of declining an initial IRD organ offer.

We performed a retrospective analysis of candidates waitlisted for isolated PHT using 20072017 United Network of Organ Sharing datasets. Match runs identified candidates receiving IRD offers. Competing risks analysis was used to determine mortality risk for those that declined an initial IRD offer with stratified Cox regression to estimate the survival benefit associated with accepting initial IRD offers. Overall, 238/1067 (22.3%) initial IRD offers were accepted. Candidates accepting an IRD offer were younger (7.2 versus 9.8 years, p < 0.001), more often female (50 versus 41%, p = 0.021), more often listed status 1A (75.6 versus 61.9%, p < 0.001), and less likely to require mechanical bridge to PHT (16% versus 23%, p = 0.036). At 1- and 5-year follow-up, cumulative mortality was significantly lower for candidates who accepted compared to those that declined (6% versus 13% 1-year mortality and 15% versus 25% 5-year mortality, p = 0.0033). Decline of an IRD offer was associated with an adjusted hazard ratio for mortality of 1.87 (95% CI 1.24, 2.81, p < 0.003).

IRD organ acceptance is associated with a substantial survival benefit. Increasing acceptance of IRD organs may provide a targetable opportunity to decrease waitlist mortality in PHT.

Reproductive issues as related to CHD must be discussed in the clinic and at home. Providers can ensure that correct information is imparted to the adolescent and encourage mothers to provide support and guidance to the adolescent. The level to which these conversations occur is unknown.

A survey distributed to female adolescent/mother dyads assessed self-reported conversations with the healthcare provider and between each other about reproductive health topics. A clinician survey was completed to assess CHD diagnosis, risk of hormonal contraception, and pregnancy risk.

Among 91 dyads, 33.0% of adolescents and 42.9% of mothers reported discussing recurrence risk of CHD with the provider. In regard to the cardiac lesion affecting a baby, 30.7% of adolescents and 28.7% of mothers reported discussing this with a provider. Significantly less adolescents and mothers reported discussing the risks of hormonal contraception and pregnancy with a provider. In assessing conversations between adolescents and mothers, only 44.2% of adolescents and 52.3% of mothers reported discussing with each other the safety of using birth control and 46.5% of adolescents and 64.0% of mothers reported discussing the safety of pregnancy.

Adolescents with CHD and their mothers report low rates of reproductive health-related conversations with the healthcare provider, and mothers report low rates of having these conversations with their daughters. These topics should be discussed at each appointment with the cardiologist and must be encouraged to continue at home.

Left ventricular assist devices enable recovery from severe heart failure and serve as a bridge to heart transplantation. However, chronic mechanical unloading can impair myocardial recovery. We aimed to assess myocyte size, fibrosis, apoptosis, and β-adrenoreceptor levels after rats with left ventricle unloading induced by heterotopic heart transplantation were administered carvedilol and metoprolol.

Thirty rats with heart transplants were divided randomly into control, carvedilol treatment, and metoprolol treatment groups. Follow-up was conducted after 2 and 4 weeks of unloading.

Carvedilol and metoprolol treatments did not prevent the decrease in myocyte diameter in unloaded left ventricles. Metoprolol significantly decreased the ratio of the fibrotic area in the unloaded heart, measured using Masson’s trichrome staining after 2 weeks. However, carvedilol and metoprolol did not reduce apoptosis, based on measurements of terminal deoxynucleotidyl-transferase-mediated dUTP nick end-labelling positive cells and the expression of caspase-3 in unloaded hearts after 2 and 4 weeks. Metoprolol treatment did not significantly decrease the mRNA expression of myocardial SERCA2a in the unloaded heart after 2 weeks.

Compared to carvedilol treatment, metoprolol treatment improved myocardial fibrosis and SERCA2a expression to a greater extent; however, neither drug prevented myocardial apoptosis.

To compare the genetic testing results of neonates with CHD by chromosomal microarray to karyotyping and fluorescence in situ hybridisation analysis.

This was a single-centre retrospective comparative study of patients with CHD and available genetic testing results admitted to the cardiac ICU between January, 2004 and December, 2017. Patients from 2004 to 2010 were tested by karyotyping and fluorescence in situ hybridisation analysis, while patients from 2012 to 2017 were analysed by chromosomal microarray.

Eight-hundred and forty-nine neonates with CHD underwent genetic testing, 482 by karyotyping and fluorescence in situ hybridization, and 367 by chromosomal microarray. In the karyotyping and fluorescence in situ hybridisation analysis group, 86/482 (17.8%) had genetic abnormalities detected, while in the chromosomal microarray group, 135/367 (36.8%) had genetic abnormalities detected (p < 0.00001). Of patients with abnormal chromosomal microarray results, 41/135 (30.4%) had genetic abnormality associated with neurodevelopmental disorders that were exclusively identified by chromosomal microarray. Conotruncal abnormalities were the most common diagnosis in both groups, with karyotyping and fluorescence in situ hybridisation analysis detecting genetic abnormalities in 26/160 (16.3%) patients and chromosomal microarray detecting abnormalities in 41/135 (30.4%) patients (p = 0.004). In patients with d-transposition of the great arteries, 0/68 (0%) were found to have genetic abnormalities by karyotyping and fluorescence in situ hybridisation compared to 7/54 (13.0%) by chromosomal microarray.

Chromosomal microarray identified patients with CHD at genetic risk of neurodevelopmental disorders, allowing earlier intervention with multidisciplinary care and more accurate pre-surgical prognostic counselling.

Systemic venous hypertension and low cardiac output are believed to be important mediators of liver injury after the Fontan procedure. Pulmonary vasodilators have the potential to improve such haemodynamics. The aim of this study was to assess the acute effects of exercise on liver stiffness and venous pressures and to assess the impact of inhaled Treprostinil on this response.

In this prospective, double-blind, placebo-controlled, crossover trial, 14 patients with a Fontan circulation were randomised to inhalation of placebo and Treprostinil. Incremental and constant work rate exercise tests were performed to assess the effect of Treprostinil on exercise tolerance. Venous pressures were measured throughout and liver stiffness at rest and immediately after peak exercise.

Mean age was 27.8 ± 7.9 years and 66% were females. Exercise acutely increased liver stiffness by 30% (mean shear wave speed: 2.38 ± 0.71 versus 2.89 ± 0.51 ms, p = 0.02). Peripheral venous pressures increased acutely during both incremental (12.1 ± 2.4 versus 22.6 ± 8.0 mmHg, p < 0.001) and constant work rate exercise (12.5 ± 2.5 versus 23.4 ± 5.2 mmHg, p < 0.001). Overall, Treprostinil failed to attenuate exercise-induced increases in liver stiffness. Compared with placebo, Treprostinil did not significantly impact venous pressure responses, VO2peak, nor exercise endurance times.

Peripheral venous pressure increased acutely during exercise by an average of 88% above baseline and was not altered by administration of inhaled Treprostinil. Liver stiffness measured immediately post-exercise increased acutely by an average of 30%, with no attenuation following Treprostinil inhalation.

The purpose of this study was to evaluate the mid-term outcome of aortic valve replacement for bicuspid aortic valve and tricuspid aortic valve and the related risk factors.

From January 2014 to June 2019, 177 tricuspid aortic valve patients and 101 bicuspid aortic valve patients who underwent aortic valve replacement in our hospital were collected. 1:1 propensity score matching analysis was used to control the bias in patient selection. The perioperative and follow-up data between the two groups were compared. Independent risk factors which were associated with the continued dilatation of the ascending aorta were identified by univariate or multivariate logistic regression analysis.

After the matching procedure, 160 patients were included in the analysis (80 in each group). Baseline characteristics, intraoperative, and perioperative outcomes were similar between the two groups (all p > 0.05). Moreover, 67 patients in the tricuspid aortic valve group and 70 in the bicuspid aortic valve group completed the follow-up. The ascending aorta change, annual change rate, and the proportion of continuous dilation of ascending aorta in bicuspid aortic valve group were significantly higher than those in the tricuspid aortic valve group (p < 0.05). Multivariate logistic regression analysis showed that type 1 in bicuspid aortic valve (OR 5.173; 95% CI 1.772, 15.101; p = 0.003), aortic regurgitation (OR 3.673; 95% CI 1.133, 11.908; p = 0.030), and aortic valve stenosis with regurgitation (OR 6.489; 95% CI 1.726, 24.404; p = 0.006) were independent risk factors for the continued dilatation of the ascending aorta in all AV patients. Furthermore, the multivariate logistic regression analysis showed that type 1 in bicuspid aortic valve (OR 5.157; 95% CI 1.053, 25.272; p = 0.043), age ≥ 40 years (OR 6.956; 95% CI 1.228, 39.410; p = 0.028), and aortic regurgitation (OR 4.322; 95% CI 1.174, 15.911; p = 0.028) were independent risk factors for the continued dilatation of the ascending aorta in bicuspid aortic valve patients.

Compared with tricuspid aortic valve patients, the ascending aorta of bicuspid aortic valve patients is more likely to continue to enlarge after aortic valve replacement. Type 1 in bicuspid aortic valve, age ≥ 40 years, and aortic regurgitation were the independent risk factors.

Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour.

All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling.

Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue.

All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

The adult population of repaired tetralogy of Fallot is increasing and at risk of pre-mature death and arrhythmia. This study evaluates risk factors for adverse outcome and the effect of pulmonary valve replacement within a national cohort.

A retrospective cohort study of 341 adult repaired tetralogy of Fallot (16–72 years) managed through a single national service was undertaken incorporating over 1200 patient-years of follow-up. Demographics, cardiopulmonary exercise testing, cardiac magnetic resonance, reintervention (including pulmonary valve replacement), and clinical events were analysed. The influence of these parameters on a primary outcome (death or arrhythmia) was evaluated.

Compared with an age-/gender-matched population, patients experienced a reduced survival, particularly males over 55 years (standardised mortality ratio : 6.12, 95% CI: 1.64–15.66, p = 0.004). Cox proportional hazards modelling identified increased indexed right ventricle (RV) end-diastolic volume (hazard ratio (HR): 2.86, 95% CI: 1.4–5.85, p = 0.004) and female gender (HR (male): 0.37, 95% CI: 0.14–0.98, p = 0.045) to be predictors significantly associated with the primary outcome. Pulmonary valve replacement undertaken at indexed RV end-diastolic volume = 145 ml/m2 reduced RV volumes and QRS duration but did not improve cardiopulmonary exercise testing nor NYHA class. Pulmonary valve replacement during cohort period was associated with increased risk of primary outcome (HR: 2.82, 95% CI: 1.36–5.86, p = 0.005).

Although the majority of adult tetralogy of Fallot were asymptomatic in NYHA 1, cardiopulmonary exercise testing revealed important deficits. Tetralogy of Fallot survival was reduced compared to the general population. Female gender and increasing RV end-diastolic volume predicted adverse events. Pulmonary valve replacement reduced RV volumes and QRS duration but did not improve primary outcome.

To assess the efficacy and safety of captopril, simvastatin, and L-carnitine as cardioprotective drugs in children with type 1 diabetes mellitus on different echocardiographic parameters, electrocardiographic parameter, lipid profile, and carotid intima–media thickness.

This randomised controlled trial was conducted on 100 children with type 1 diabetes mellitus for more than 3 years during the period from September 2018 to June 2020. Fifty healthy children of matched age and sex served as a control group. The patients were randomly assigned into four groups (25 children each): no-treatment group who received no cardioprotective drug, simvastatin group who received simvastatin (10–20 mg/day), captopril group who received captopril (0.2 mg/kg/day), and L-carnitine group who received L-carnitine (50 mg/kg/day) for 4 months. Lipid profile, serum troponin I, carotid intima–media thickness, and echocardiographic examinations were performed on all included children before and after the treatment.

Total cholesterol and low-density lipoprotein were significantly decreased in children who received simvastatin or L-carnitine. Triglycerides significantly decreased only in children who received simvastatin. High-density lipoprotein significantly increased in simvastatin and L-carnitine groups only. Serum troponin I decreased significantly in all the three treatment groups. Carotid intima–media thickness showed no significant change in all treatment groups. Echocardiographic parameters significantly improved in simvastatin, L-carnitine, and captopril groups.

Captopril, simvastatin, and L-carnitine have a significant beneficial effect on cardiac functions in children with type 1 diabetes mellitus. However, only simvastatin and L-carnitine have a beneficial effect on the lipid profile. The drugs were safe and well tolerated.

Clinical trial registration: The clinical trial was registered at www.clinicaltrial.gov (NCT03660293).