Prognosis of the transposition of the great arteries has completely changed since the introduction of the arterial switch. Time limit to perform this intervention is still controversial. The aim of this study is to demonstrate the early and late outcome of primary arterial switch operation beyond the age of months.

We included all patients with the diagnosis of transposition of the great arteries with intact ventricular septum beyond the age of 8 weeks who underwent primary arterial switch operation. The procedures were performed by the same surgeon, in two different institutes. Patients who had transposition of the great arteries and associated anomalies (except atrial septal defect and persistent arterial duct) were excluded. Ventricular shape, geometry, and mass were not considered during the decision on procedure type.

In the study, 11 patients with the diagnosis of simple d-transposition of the great arteries beyond 8 weeks were undergone primary arterial switch operation with a mean age of 90.63 days (60–137 days), and 7 patients had a Rashkind procedure. All patients had squashed left ventricle shape with preserved function. The sternum was left open in 10 patients. Extracorporeal membrane oxygenation support was necessary in 45.45% of cases. The mean mechanical ventilation time was 7.27 days (1–16 days). No mortality was recorded until now. Post-operatory left ventricular function was preserved in 90.9% of the patients. Only one patient had mild myocardial dysfunction at the time of discharge.

Primary arterial switch procedure can still be the best surgical option in patients with the diagnosis of transposition of the great arteries with intact ventricular septum beyond 8 weeks of age, providing that mechanical circulatory support and an expert cardiac intensive care unit service are available.

Exercise stress echocardiography and layer-specific strains are emerging as important tools for cardiac assessment. This study was aimed to evaluate layer-specific strains and torsion parameters during exercise in order to investigate the characteristics of cardiac dysfunction in patients with repaired tetralogy of Fallot and to detect subclinical left ventricular dysfunction.

Thirteen patients with repaired tetralogy of Fallot (median age, 17.3 [interquartile range, 14.5–22.9] years; 6 males) and 13 controls (median age, 28.5 [interquartile range, 27.6–31.6] years; 13 males) underwent echocardiography at rest and during supine exercise. Layer-specific longitudinal strain and circumferential strain of three myocardial layers (endocardium, midmyocardium, and epicardium), torsion, and untwisting rate were measured using two-dimensional speckle-tracking echocardiography.

Peak endocardial papillary circumferential strain (−21.1 ± 2.6% vs. −25.8 ± 3.8%, p = 0.007), midmyocardial apical circumferential strain (−11.1 ± 4.0% vs. −15.6 ± 3.2%, p = 0.001), epicardial apical circumferential strain (−11.1 ± 4.0% vs. −15.6 ± 3.2%, p = 0.021), and torsion (8.9 ± 6.0 vs. 14.9 ± 4.8 degree, p = 0.021) were significantly lower in the repaired tetralogy of Fallot group than in the control group during exercise, though no significant difference was found between patients and controls at rest.

Analysis of layer-specific strains and torsion parameters during exercise could detect subclinical left ventricular dysfunction in patients with repaired tetralogy of Fallot, which might reflect potential myocardial damage, at a stage where these parameters have normal values at rest. This finding provides new insight into the mechanisms of cardiac dysfunction in patients with repaired tetralogy of Fallot.

Hypertrophic cardiomyopathy is an autosomal dominant hereditary disease characterised by left ventricular asymmetry hypertrophy. However, our knowledge of the genetic background in hypertrophic cardiomyopathy cases is limited. Here, we aimed to evaluate pathogenic gene mutations in a family with high-risk hypertrophic cardiomyopathy and analyse the genotype/phenotype relationships in this family.

The proband, her parents, and her niece underwent whole-exome sequencing, and the genotypes of family members were identified using Sanger sequencing. mRNA expression was detected using reverse transcription sequencing. Structural impairments were predicted by homologous modelling. A family survey was conducted for patients with positive results to obtain information on general clinical symptoms, electrocardiography, ambulatory electrocardiography, echocardiography, and 3.0T cardiac magnetic resonance findings. Regular follow-up was performed for up to 6 months.

Five family members, including the proband, carried a cleavage site mutation in the MYBPC3 gene (c.2737+1 (IVS26) G>T), causing exon 26 of the MYBPC3 gene transcript to be skipped and leading to truncation of cardiac myosin-binding protein C. Family survey showed that the earliest onset age was 13 years old, and three people had died suddenly at less than 40 years old. Three pathogenic gene carriers were diagnosed with hypertrophic cardiomyopathy, and all showed severe ventricular septal hypertrophy.

The c.2737+1 (IVS26) G>T mutation in the MYBPC3 gene led to exon 26 skipping, thereby affecting the structure and function of cardiac myosin-binding protein C and leading to severe ventricular hypertrophy and sudden death.

The aim of this study was to investigate the relationship between C-reactive protein and erythrocyte sedimentation rate and neutrophil-to-lymphocyte, platelet-to-lymphocyte, and monocyte-to-lymphocyte ratios in acute rheumatic fever in children.

In this retrospective study, 182 patients with acute rheumatic fever and 173 controls were included. Complete blood count parameters, and neutrophil-to-lymphocyte, monocyte-to-lymphocyte, and platelet-to-lymphocyte ratios were recorded for all the patients underwent transthoracic echocardiography.

Neutrophil-to-lymphocyte, monocyte-to-lymphocyte, and platelet-to-lymphocyte ratios were significantly higher in patients with rheumatic heart disease than patients without cardiac involvement (p < 0.05). C-reactive protein and erythrocyte sedimentation rate levels were found to have a positive correlation with neutrophil-to-lymphocyte (r = 0.228, p = 0.001; r = 0.355, p = 0.001), platelet-to-lymphocyte (r = 0.227, p = 0.01; r = 0.149, p = 0.005), and monocyte-to-lymphocyte ratios (r = 0.117, p = 0.005; r = 0.107, p = 0.044). Cardiac involvement was present in 152 (83.5%) of the patients. Neutrophil-to-lymphocyte, monocyte-to-lymphocyte, and platelet-to-lymphocyte ratios were significantly higher in patients with rheumatic heart disease than patients without cardiac involvement (p < 0.05). Patients with carditis were grouped according to mitral, aortic, or both valve involvement but there was no significant difference between the groups with respect to neutrophil-to-lymphocyte, monocyte-to-lymphocyte, and platelet-to-lymphocyte ratios. In addition, neutrophil-to-lymphocyte and monocyte-to-lymphocyte ratios were significantly higher in patients with Sydenham’s chorea than without chorea (p < 0.05).

Neutrophil-to-lymphocyte, platelet-to-lymphocyte, and monocyte-to-lymphocyte ratios may help make the diagnosis of acute rheumatic fever and its prognosis by serial measurements in follow-up but none of them tell us the severity of carditis. Also, this is the first study showing the positive correlation between Sydenham’s chorea and neutrophil-to-lymphocyte and monocyte-to-lymphocyte ratios. Further studies are needed to confirm this hypothesis, as this is the first study in the literature on this topic.

In this study, we share our experience in the Warden procedure for the repair of partial anomalous pulmonary venous connections (PAPVCs) draining high in the superior caval vein in 65 cases of the paediatric age group over a period of 10 years.

In total, 65 patients receiving the Warden procedure for the repair of high PAPVCs (draining above the cavoatrial junction) over a period of 10 years starting from January, 2010 to January, 2020 were included in this study.

In total, 34 were males (52.3%) and 31 were females (47.7%). The mean age was 3.47 ± 1.4 years, while the mean weight was 17.3 ± 5.3 kilograms. The mean bypass time was 84.2 ± 13.9 minutes and the mean cross clamp time was 54.8 ± 12.9 minutes. The mean intensive care unit stay was 2.14 ± 0.89 days, while the mean hospital stay was 5.9 ± 1.4 days. There was no in-hospital mortality or persistent sinus node dysfunction necessitating permanent pacemaker. In total, 62 patients (95%) could be followed up for a mean period of 7.8 ± 1.2 years after discharge. During the follow-up period, no stenosis was detected in the Warden anastomosis or the rerouted pulmonary veins and only one case of late mortality (1.6%) occurred due to a non-cardiac cause.

The Warden procedure is a safe approach for the repair of high PAPVCs (above the cavoatrial junction) in the paediatric age group with good long-term results and low incidence of complications like sinus node dysfunction as well as pulmonary vein and superior caval vein obstruction.

Advance care planning and palliative care are gaining recognition as critical care components for adults with CHD, yet these often do not occur. Study objectives were to evaluate ACHD providers’ 1) comfort managing patients’ physical symptoms and psychosocial needs and 2) perspectives on the decision/timing of advance care planning initiation and palliative care referral.

Cross-sectional study of ACHD providers. Six hypothetical patients were described in case format, followed by questions regarding provider comfort managing symptoms, initiating advance care planning, and palliative care referral.

Fifty providers (72% physicians) completed surveys. Participants reported low levels of personal palliative care knowledge, without variation by gender, years in practice, or prior palliative care training. Providers appeared more comfortable managing physical symptoms and discussing prognosis than addressing psychosocial needs. Providers recognised advance directives as important, although the percentage who would initiate advance care planning ranged from 18 to 67% and referral to palliative care from 14 to 32%. Barriers and facilitators to discussing advance care planning with patients were identified. Over 20% indicated that advance care planning and end-of-life discussions are best initiated with the development of at least one life-threatening complication/hospitalisation.

Providers noted high value in advance directives yet were themselves less likely to initiate advance care planning or refer to palliative care. This raises the critical questions of when, how, and by whom discussion of these important matters should be initiated and how best to support ACHD providers in these endeavours.

Efficacy of sildenafil in treating paediatric pulmonary arterial hypertension is controversial. This systematic review aimed to explore the safety and effect of sildenafil on treating paediatric pulmonary arterial hypertension (PAH) through meta-analysis.

In this study, the electronic databases, including the Cochran Library database, EMBASE, and MEDLINE were systemically retrieved to identify the related randomised controlled trials (RCTs). Two reviewers had independently completed study selection, data collection, and assessment of the bias risk. Amongst 938 articles researched according to our retrieval strategy, 15 papers that involved 673 cases had been screened. Relative to control group, the sildenafil group had markedly reduced mortality (RR = 0.25, 95% CI: 0.12–0.51; p < 0.0001), but difference within the mortality was not statistically significant between high- and low-dose sildenafil groups (p = 0.152). Nonetheless, difference of the mean pulmonary arterial pressure between sildenafil as well as control group was of no statistical significance. Differences in the length of hospital stay and the incidences of pulmonary hypertensive crisis between children with PAH and controls were of no statistical significance. However, the summary estimate favoured that sildenafil reduced the duration of mechanical ventilation time, as well as the length of ICU stay and inotropic support.

Sildenafil therapy reduces the mortality of PAH patients, but its effects on the haemodynamic outcomes and other clinical outcomes are still unclear.

CHDs are one of the most frequent congenital malformations, affecting one in hundred live births. In total, 70% will require treatment in the first year of life, but over 90% of cases in low- and middle-income countries receive no treatment or suboptimal treatment. As a result, CHDs are responsible for 66% of preventable deaths due to congenital malformations in low- and middle-income countries. This study examines the unmet need of congenital cardiac care around the world based on the global burden of disease.

CHD morbidity and mortality data for 2006, 2011, and 2016 were collected from the Institute for Health Metrics and Evaluation Global Burden of Disease Results Tool and analysed longitudinally to assess trends in excess morbidity and mortality.

Between 2006 and 2016, a 20.7% reduction in excess disability-adjusted life years and 20.6% reduction in excess deaths due to CHDs were observed for children under 15. In 2016, excess global morbidity and mortality due to CHDs remained high with 14,788,418.7 disability-adjusted life years and 171,761.8 paediatric deaths, respectively. In total, 90.2% of disability-adjusted life years and 91.2% of deaths were considered excess.

This study illustrates the unmet need of congenital cardiac care around the world. Progress has been made to reduce morbidity and mortality due to CHDs but remains high and largely treatable around the world. Limited academic attention for global paediatric cardiac care magnifies the lack of progress in this area.

Rapid right ventricular pacing during balloon aortic valvuloplasty is commonly used to achieve balloon stability in children and adults. There is no consensus for the use of the technique in neonates and infants. We sought to review our institutional experience with rapid right ventricular pacing-assisted balloon aortic valvuloplasty across all age groups and evaluate the safety and effectiveness of the technique in the sub-group of neonates and infants <12months.

Retrospective study between February, 2011 and February, 2020.

A total of 37 patients (Group I: 21 neonates/infants <12months and Group II: 16 children 12 months–16 years) were analysed. Catheter-measured left ventricular to aortic gradient reduced from median of 66 mmHg (with a range from 30 to 125 mmHg) to 14 mmHg (with a range from 5 to 44 mmHg) in Group I and 44 mmHg (with a range from 28 to 93 mmHg) to 18 mmHg (with a range from 2 to 65 mmHg) in Group II (p < 0.001). Procedure and fluoroscopy times were identical in the two groups. Balloon:annulus ratio was 0.94 and 0.88 in Groups I and II, respectively. Freedom from reintervention was 100% for Group I at a median time of 3.2 years and 81% at 2.7 years for Group II. Reinterventions in Group II (3/16 pts) were performed predominantly for complex left ventricular outflow tract stenosis. At follow-up echocardiogram, 45% of patients in Group I had no aortic regurgitation, 30% trace-mild, 20% mild-moderate, and 5% moderate aortic regurgitation, whereas in Group II, 50% of patients had no aortic regurgitation, 32% had mild aortic regurgitation, and 18% mild-moderate aortic regurgitation. Unicuspid valves were only encountered in Group 1 (2/21 pts, 10%) and they were predictive of mild-aortic regurgitation during follow-up (p = 0.003). Ventricular fibrillation occurred in three neonates with suspicion of myocardial ischemia on the pre-procedure echocardiogram. All were successfully defibrillated.

Rapid right ventricular pacing can be expanded in neonates and infants to potentially decrease the incidence of aortic regurgitation and reintervention rates, hence avoiding high-risk surgical bail-out procedures for severe aortic regurgitation in the first year of life. Myocardial ischemia may predispose to ventricular dysrhythmias during rapid right ventricular pacing.