The optimal approach to unifocalisation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (pulmonary artery/ventricular septal defect/major aortopulmonary collaterals) remains controversial. Moreover, the impact of collateral vessel disease burden on surgical decision-making and late outcomes remains poorly defined. We investigated our centre’s experience in the surgical management of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals.

Between 1996 and 2015, 84 consecutive patients with pulmonary artery/ventricular septal defect/major aortopulmonary collaterals underwent unifocalisation. In all, 41 patients received single-stage unifocalisation (Group 1) and 43 patients underwent multi-stage repair (Group 2). Preoperative collateral vessel anatomy, branch pulmonary artery reinterventions, ventricular septal defect status, and late right ventricle/left ventricle pressure ratio were evaluated.

Median follow-up was 4.8 compared with 5.7 years for Groups 1 and 2, respectively, p = 0.65. Median number of major aortopulmonary collaterals/patient was 3, ranging from 1 to 8, in Group 1 compared with 4, ranging from 1 to 8, in Group 2, p = 0.09. Group 2 had a higher number of lobar/segmental stenoses within collateral vessels (p = 0.02). Group 1 had fewer catheter-based branch pulmonary artery reinterventions, with 5 (inter-quartile range from 1 to 7) per patient, compared with 9 (inter-quartile range from 4 to 14) in Group 2, p = 0.009. Among patients who achieved ventricular septal defect closure, median right ventricle/left ventricle pressure was 0.48 in Group 1 compared with 0.78 in Group 2, p = 0.03. Overall mortality was 6 (17%) in Group 1 compared with 9 (21%) in Group 2.

Single-stage unifocalisation is a promising repair strategy in select patients, achieving low rates of reintervention for branch pulmonary artery restenosis and excellent mid-term haemodynamic outcomes. However, specific anatomic substrates of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals may be better suited to multi-stage repair. Preoperative evaluation of collateral vessel calibre and function may help inform more patient-specific surgical management.

Anomalous aortic origin of a coronary artery is the second leading cause of sudden cardiac arrest/death in young athletes in the United States of America. Limited data are available regarding family history in this patient population.

Patients were evaluated prospectively from 12/2012 to 02/2017 in the Coronary Anomalies Program at Texas Children’s Hospital. Relevant family history included the presence of CHD, sudden cardiac arrest/death, arrhythmia/pacemaker use, cardiomyopathy, and atherosclerotic coronary artery disease before the age of 50 years. The presence of one or more of these in 1st- or 2nd-degree relatives was considered significant.

Of 168 unrelated probands (171 patients total) included, 36 (21%) had significant family history involving 19 (53%) 1st-degree and 17 (47%) 2nd-degree relatives. Positive family history led to cardiology referral in nine (5%) patients and the presence of abnormal tests/symptoms in the remaining patients. Coronary anomalies in probands with positive family history were anomalous right (27), anomalous left (five), single right coronary artery (two), myocardial bridge (one), and anomalous circumflex coronary artery (one). Conditions present in their family members included sudden cardiac arrest/death (15, 42%), atherosclerotic coronary artery disease (14, 39%), cardiomyopathy (12, 33%), CHD (11, 31%), coronary anomalies (3, 8%), myocardial bridge (1, 3%), long-QT syndrome (2, 6%), and Wolff–Parkinson–White (1, 3%).

In patients with anomalous aortic origin of a coronary artery and/or myocardial bridges, there appears to be familial clustering of cardiac diseases in approximately 20% of patients, half of these with early occurrence of sudden cardiac arrest/death in the family.

We previously reported four heterozygous missense mutations of MYH7, KCNQ1, MYLK2, and TMEM70 in a single three-generation Chinese family with dual Long QT and hypertrophic cardiomyopathy phenotypes for the first time. However, the clinical course among the family members was various, and the potential myocardial dysfunction has not been investigated.

The objective of this study was to investigate the echocardiographic and electrocardiographic characteristics in a genetic positive Chinese family with hypertrophic cardiomyopathy and further to explore the association between myocardial dysfunction and electric activity, and the identified mutations.

A comprehensive echocardiogram – standard two-dimensional Doppler echocardiography and three-dimensional speckle tracking echocardiography – and electrocardiogram were obtained for members in this family.

As previously reported, four missense mutations – MYH7-H1717Q, KCNQ1-R190W, MYLK2-K324E, and TMEM70-I147T – were identified in this family. The MYH7-H1717Q mutation carriers had significantly increased left ventricular mass indices, elevated E/e’ ratio, deteriorated global longitudinal stain, but enhanced global circumferential and radial strain compared with those in non-mutation patients (all p<0.05). The KCNQ1-R190W carriers showed significantly prolonged QTc intervals, and the MYLK2-K324E mutation carriers showed inverted T-waves (both p<0.05). However, the TMEM70-I147T mutation carriers had similar echocardiography and electrocardiographic data as non-mutation patients.

Three of the identified four mutations had potential pathogenic effects in this family: MYH7-H1717Q was associated with increased left ventricular thickness, elevated left ventricular filling pressure, and altered myocardial deformation; KCNQ1-R190W and MYLK2-K324E mutations were correlated with electrocardiographic abnormalities reflected in long QT phenotype and inverted T-waves, respectively.

The objective of this research was to study lung function, physical capacity, and effect of endurance training in children and adolescents after Fontan palliation compared with healthy matched controls.

Fontan patients (n=30) and healthy matched control patients (n=25) performed dynamic and static spirometry, and pulmonary diffusing capacity and maximal oxygen uptake tests, before and after a 12-week endurance training programme and at follow-up after 1 year.

Fontan patients had a restrictive lung pattern, reduced pulmonary diffusing capacity (4.27±1.16 versus 6.61±1.88 mmol/kPa/minute, p<0.001), and a reduced maximal oxygen uptake (35.0±5.1 versus 43.7±8.4 ml/minute/kg, p<0.001) compared with controls. Patients had air trapping with a higher portion of residual volume of total lung capacity compared with controls (26±6 versus 22±5%, p<0.05). Vital capacity increased for patients, from 2.80±0.97 to 2.91±0.95 L, p<0.05, but not for controls after endurance training. The difference in diffusing capacity between patients and controls appeared to be greater with increasing age.

Fontan patients have a restrictive lung pattern, reduced pulmonary diffusing capacity, and reduced maximal oxygen uptake compared with healthy controls. Endurance training may improve vital capacity in Fontan patients. The normal increase in pulmonary diffusing capacity with age and growth was reduced in Fontan patients, which is concerning. Apart from general health effects, exercise may improve lung function in young Fontan patients and should be encouraged.

Kawasaki disease is the leading cause of acquired heart disease in children from developed countries. The Interleukin-6/ Interleukin-12 cytokine family has many members, including the paradoxical anti- and pro-inflammatory Interleukin-27. Recent studies have demonstrated that Interleukin-27 plays a role in immune diseases. Given this, we sought to evaluate the association between Interleukin-27 genetic polymorphisms and Kawasaki disease in Chinese children.

Interleukin-27 was genotyped in 100 Kawasaki disease children and 98 healthy children (controls), resulting in the direct sequencing of eight Single-nucleotide Polymorphisms: rs17855750, rs40837, rs26528, rs428253, rs4740, rs4905, rs153109, and rs181206). There were no significant differences in Interleukin-27 genotypes between Kawasaki disease and control groups. Of the eight Single-nucleotide Polymorphisms, there was a significant increase in the risk of Kawasaki disease with coronary arterial lesions in children with the rs17855750 (T>G), rs40837 (A>G), rs4740 (G>A), rs4905 (A>G), rs153109 (T>C), and rs26528 (A>G) Single-nucleotide Polymorphisms. This was particularly true for rs17855750 (T>G), which had a greater frequency in Kawasaki disease children with coronary arterial aneurysm.

These findings may be used as risk factors when assessing a child’s likelihood of developing Kawasaki disease, as well as for the development of future therapeutic treatments for Kawasaki disease.

Takayasu’s arteritis is a rare idiopathic arteritis causing stenosis or aneurysms of the aorta, pulmonary arteries, and their branches. It usually occurs in women, but has been described in children.

The objective of this study was to determine the clinical presentation, demographic profile, vascular involvement, origins, management, and outcome of children diagnosed with Takayasu’s arteritis at a Southern African tertiary care centre between 1993 and 2015.

This is a retrospective analysis of all children with Takayasu’s arteritis captured on a computerised electronic database during the study period.

A total of 55 children were identified. The female:male ratio was 3.2:1, and the mean age was 9.7±3.04 years. Most originated outside the provincial borders of the study centre. The majority presented with hypertension and heart failure. In all, 37 (67%) patients had a cardiomyopathy with a mean fractional shortening of 15±5%. A positive purified protein derivative test was documented in 73%. Abdominal aorta and renal artery stenosis were the predominant angiographic lesions. A total of 23 patients underwent 30 percutaneous interventions of the aorta, pulmonary, and renal arteries: eight stents, 22 balloon angioplasties, and seven had nephrectomies. All patients received empiric tuberculosis treatment, immunosuppressive therapy, and anti-hypertensive agents as required. Overall, there was a significant reduction in systolic blood pressure and improvement in fractional shortening (p<0.05) with all treatments.

Takayasu’s arteritis is more common in girls and frequently manifests with hypertension and heart failure. The abdominal aorta and renal arteries are mostly affected. Immunosuppressive, anti-hypertensive, and vascular intervention therapies improve blood pressure control and cardiac function.

Owing to massive improvements in the diagnostics and surgery of children with CHD, fatality has decreased substantially. As more children with CHD survive from infancy into later childhood, more will need medication for chronic heart failure. However, surprisingly little is actually known about which drugs are being used to treat children with CHD, and whether prescription rates and CHD prevalence have changed over time.

The objective of this study was to assess the total prescription of cardiovascular drugs to children during an 18-year period and to assess concomitant CHD prevalence.

All prescription data of cardiovascular drugs to children aged 0–19 years were extracted from publicly available databases in Norway and Denmark from 1999 to 2016. This was coupled with data on CHD prevalence and birth rates.

The number of defined daily doses of cardiovascular drugs prescribed to children doubled in the study period. This was because of an increased use of beta blockers, angiotensin-converting-enzyme inhibitors/angiotensin receptor blockers, and anti-arrhythmic agents. The use of some classes of drugs was significantly reduced over time. The prevalence of CHD remained constant in both countries – 80 per 10,000 births.

We show that there is an increase in the overall prescription of cardiovascular drugs to children. Beta blockers, angiotensin-converting enzyme/angiotensin receptor blockers, and anti-arrhythmics account for the largest increase. Birth rates decreased or remained constant together with CHD prevalence, suggesting that the increased use of cardiovascular drugs reflected increased prescription per patient, rather than more patients receiving a constant amount of drugs.

The description of pressure injury development is limited in children with CHD. Children who develop pressure injuries experience pain and suffering and are at risk for additional morbidity.

The objective of this study was to develop a standardized clinical assessment and management plan to describe the development of pressure injury in paediatric cardiac surgical patients and evaluate prevention strategies.

Using a novel quality improvement initiative, postoperative paediatric cardiac surgical patients were started on a nurse-driven pressure injury prevention standardized clinical assessment and management plan on admission. Data were recorded relevant to nursing assessments and management based on pre-defined targeted data statements and algorithm. Nursing feedback regarding diversions was recorded and analysed.

Data on 674 congenital paediatric cardiac surgical patients who met criteria were collected between May, 2011 and June, 2012. In 5918 patient days, a total of 4603 skin assessments were completed by nurses from the cardiac ICU and the cardiac inpatient unit, representing 77% of the expected assessments. The majority (70%, 21/30) of the 30 pressure injuries were medical-device-related and 30% (9/30) were immobility-related. The overall incidence of pressure injury was 4.4%: device-related was 3.1% and immobility-related was 1.3%. Most pressure injuries were Stage 1 (40%), followed by Stage 2 (26.7%), mucosal membrane injury (26.7%), and suspected deep tissue injuries (6.7%).

A nurse-driven pressure injury prevention standardized clinical assessment and management plan supported a programme-based evaluation of nursing practice and patient outcomes. Review of practices highlighted opportunities to standardise and focus prevention practices and ensure communication of patient vulnerabilities.

The objectives of this study were to evaluate the plasma levels of asymmetric dimethyl-L-arginine in children with pulmonary hypertension due to CHD before and after treatment with sildenafil and to evaluate its diagnostic and prognostic value as a biomarker in such children.

A total of 60 children with CHD and 30 healthy control children matched for age and sex were recruited. Children with CHD were divided into two equal groups: the normal pulmonary pressure group (n=30) and the pulmonary hypertension group (n=30). Children with pulmonary hypertension were treated with sildenafil and were followed up for 6 months. Clinical data, haemodynamic parameters, echocardiographic examination, and asymmetric dimethyl-L-arginine levels were evaluated before and after treatment.

Asymmetric dimethyl-L-arginine levels were significantly higher in patients with pulmonary hypertension than in those with CHD-only or the control group, and this increase was positively correlated with increased severity of pulmonary hypertension. Asymmetric dimethyl-L-arginine levels, mean pulmonary artery pressure, and pulmonary vascular resistance were significantly decreased after treatment with sildenafil. Moreover, asymmetric dimethyl-L-arginine level was significantly lower in patients who responded to sildenafil treatment compared with those who did not. At a cut-off point of more than 0.85 nmol/ml, asymmetric dimethyl-L-arginine has a sensitivity of 83% and a specificity of 80% to diagnose pulmonary hypertension-CHD. Asymmetric dimethyl-L-arginine has a sensitivity of 100% and a specificity of 94% to predict poor prognosis in pulmonary hypertension-CHD children at a cut-off point of 1.3 nmol/ml.

Asymmetric dimethyl-L-arginine level has a good diagnostic and prognostic value as a biomarker in children with pulmonary hypertension-CHD and can be used for following up patients with pulmonary hypertension and predicting response to treatment.