CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome.

Background: Non-invasive measurement of left ventricular output has been shown to be a repeatable technique. Little is known about the repeatability using echocardiography in determining pulmonary arterial diameters or right ventricular output. Aims: To find the most repeatable point at which to measure pulmonary arterial diameter, and to compare the repeatability of determining right ventricular output with left ventricular output. Methods: We assessed the Intra-observer and inter-observer repeatability for measuring the diameter of the pulmonary trunk in 24 term and 26 preterm infants, respectively. Interobserver repeatability was assessed for the diameters of the pulmonary trunk and aorta, for stroke distance, and for left and right ventricular output. Results: The coefficients of variation for intra-observer repeatability were 4%, 7.5% and 9% respectively for measurements of the pulmonary valve, the pulmonary trunk, and the right ventricular outflow tract. There were significant differences between observers for measurement of the pulmonary trunk (p< 0.001) and right ventricular outflow tract (p= 0.011) but not for the pulmonary valve measured in either its long (p= 0.22) or short axis (p= 0.22). Significant differences between observers were also found for the pulmonary stroke distance measured in the long axis (p= 0.004) and aortic diameter at end-diastole (p< 0.001). The other parameters did not differ significantly and were used to calculate right and left ventricular output, respectively. Mean left ventricular output was 241 mls/kg/min, with mean differences between observers of 0.6 mls/kg/min (95% confidence interval (CI): −39.2 to 40.3 mls/kg/min). Mean right ventricular output was 255 mls/kg/min, with mean differences of 0.3 mls/kg/min (95% CI: −24.1 to 23.4 mls/kg/min). Conclusion: Measuring the diameter of the pulmonary trunk at the base of the valvar hinge points was most repeatable. Repeatability of right ventricular output was similar to that of left, with absolute values similar to those published by other workers.

We evaluated the efficiency of non-invasive magnetic resonance coronary angiography in detecting coronary arterial lesions in 106 patients, aged from 4 months to 37 years, with a median of 13 years, with Kawasaki disease. Non-contrast enhanced, free-breathing magnetic resonance coronary angiographic studies using both the steady-state free precession technique, namely bright blood imaging, and navigator-echo proton density weighted black blood imaging, so-called black blood imaging, were performed in all the patients. Conventional X-ray coronary angiography was performed in 70 patients with coronary arterial lesions.

We observed 97 aneurysms, 17 dilatations, 17 occlusions, 18 localized stenoses and 10 recanalized vessels, and we clarified their unique pattern of images on magnetic resonance coronary angiography. The differences in size of the aneurysms as seen on X-ray coronary angiography and bright blood imaging was mean 0.0, and the 95% confidence interval was from −1.4 to 1.5 on the Bland-Altman plots. With bright blood imaging, the sensitivity of occlusion and localized stenosis based on X-ray angiography was 94.2% and 97.2%, specificity was 99.5% and 97.2%, and negative-predictive value was 99.5% and 97.2%, respectively. Black blood imaging provided remarkable visualization of the thickened intima of aneurysms, and/or thrombus, in 38 lesions. We conclude that magnetic resonance coronary angiography can visualize all types of lesions due to Kawasaki disease in patients of all ages, and that it is useful to reduce the number of times X-ray angiography needs to be performed in patients with Kawasaki disease.

Paediatric myocarditis remains challenging from the perspectives of diagnosis and management. Multiple aetiologies exist and the majority of cases appear to be related to viral illnesses. Enteroviruses are believed to be the most common cause, although cases related to adenovirus may be more frequent than suspected. The clinical presentation is extremely varied, ranging from asymptomatic to sudden unexpected death. A high index of suspicion is crucial. There is emerging evidence to support investigations such as serum N-terminal B-type natriuretic peptide levels, as well as cardiac magnetic resonance imaging as adjuncts to the clinical diagnosis. In the future, these may reduce the necessity for invasive methods, such as endomyocardial biopsy, which remain the gold standard. Management generally includes supportive care, consisting of cardiac failure medical management, with the potential for mechanical support and cardiac transplantation. Treatments aimed at immunosuppression remain controversial. The paediatric literature is extremely limited with no conclusive evidence to support or refute these strategies. This article summarises the current literature regarding aetiology, clinical presentation, diagnosis, and management of myocarditis in paediatric patients.

Introduction: Dilated cardiomyopathy is usually idiopathic and may arise secondary to infections or metabolic or genetic causes. Another rare cause is hypocalcaemia. Owing to the fact that calcium plays an essential role in excitation and contraction of myocardial muscle, myocardial contractility may decline in patients with hypocalcaemia. Materials and Methods: Patients with symptoms of congestive heart failure and rickets-related hypocalcaemia were assessed clinically and by echocardiography in a paediatric cardiology clinic. Echocardiography was performed for all patients. Rickets was diagnosed according to the clinical, laboratory, and radiologic findings. Maternal lifestyle and living conditions were investigated, and the maternal 25-OH vitamin D3 blood level was measured. Results: We evaluated eight patients who developed heart failure as a result of severe hypocalcaemia associated with rickets between August, 1999 and June, 2012. The age distribution of the patients was 3–12 months. Laboratory results were consistent with advanced-stage rickets. Severe hypocalcaemia was detected in all patients. The maternal 25-OH vitamin D3 levels were low. Echocardiography revealed increased pre-treatment left ventricle end-systolic and end-diastolic diameters for age and reduced ejection fraction and fractional shortening. After clinical improvement, the patients were discharged. Conclusions: Severe hypocalcaemia associated with rickets must always be kept in mind among the causes of dilated cardiomyopathy and impaired cardiac function in infants. If diagnosed and treated in time, dilated cardiomyopathy and severe heart failure related to rickets respond well.

Cardiopulmonary bypass induces a generalized inflammatory response, with fever and leukocytes, which is difficult to differentiate from an infection. Recently, procalcitonin has been proposed as an early and specific marker of bacterial infection. The influence of cardiopulmonary bypass on production of procalcitonin, therefore, must be assessed before considering this molecule as a valuable marker of infection after cardiac surgery in children. With this in mind, we measured levels of procalcitonin, interleukin 6, and C-reactive protein before and 6 h, 1, 3 and 5 days after cardiopulmonary bypass, in 25 children undergoing cardiac surgery. Cardiopulmonary-bypass induced a transient increase in procalcitonin, with a peak at 24 h, with a median of 1.13 μg/l, a 25th and 75th interquartile of 0.68–2.25, and a p value of less than 0.001. The value had returned to normal in the majority of the children by the third day after surgery. Peak values correlated with the duration of cardiopulmonary-bypass, with a r-value of 0.58 and a p value of 0.003; cross-clamp time, with a r-value of 0.62 and a p value of 0.001; days of mechanical ventilation, with a r-value of 0.62 and a p value of 0.001; and days of stay in intensive care, with a r-value of 0.68, and a p value of 0.0003. The value returned to normal after 3 days in 83% of the patients. Levels of interleukin 6 and C-reactive protein also increased significantly after surgery, and remained elevated for up to 5 days.

Thus, in contrast to other markers, levels of procalcitonin in the serum are only slightly and transiently influenced by cardiopulmonary bypass, and may prove to be useful in the early recognition of an infection subsequent to cardiopulmonary bypass.

Chronic illness in a child produces stress for both the child with the illness and the family of which he or she is a part.1 Today, it is estimated that greater than one-tenth of children are living with some form of chronic illness or condition.2–3 Faced with this stress, children and families are required to adapt to potential physical, emotional, social, and financial challenges. Professionals providing health care have an opportunity to influence how children and families interpret and adapt to these challenges. Guidance can be drawn from the multiple theoretical perspectives that have explored the process of adaptation to chronic illness.

The anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva with an interarterial, intramural, and/or intraconal course is a relatively rare congenital defect of the heart that may be associated with an increased risk of ischaemia of the myocardium and sudden death, notably in children and young adults. Data are limited regarding stratification of risk and long-term outcomes of these patients. In 2009, the Anomalous Coronary Artery Working Group formed the Congenital Heart Surgeons’ Society Registry of Anomalous Aortic Origin of a Coronary Artery to obtain information on large numbers of young patients with anomalous aortic origin of a coronary artery with the goal to better understand the natural and surgical history of this anomaly as well as to develop evidence-based treatment and management guidelines. In this report, we describe the data we have collected from the registry and the current state of the registry.

The objectives of this review were to discuss the potential impact of Big Data analytics in paediatric cardiovascular disease and its potential to address the challenges of transparency in delivery of care to this unique population.

In the past, coronary arterial anomalies have been difficult to diagnose by non-invasive methods. Identification of coronary arterial origins is now a routine part of the standard paediatric echocardiogram. Anomalous origin of a coronary artery from the pulmonary trunk is an extremely important diagnosis to make. Many echocardiographic features are not directly related to the visualisation of the coronary arterial origin. Left ventricular dilation and abnormal ventricular performance are common, along with mitral regurgitation and evidence of collateralisation of the flow from the coronary artery that has an aortic origin. In some cases, the anomalous coronary artery can be seen to arise directly from the pulmonary trunk. Congenital atresia of the main stem of the left coronary artery has a similar echocardiographic presentation, except that its aortic origin is not determined. Anomalous aortic origin of the coronary artery has important implications, as the first presenting symptom can be sudden death. With meticulous attention to the origins of the coronary arteries, echocardiographic diagnosis can also be achieved. In contrast to the anomalous origin of a coronary artery from the pulmonary trunk, ventricular performance is usually normal. Whenever there is doubt as to the definition of the origin of the coronary arteries and, indeed, when there is serious clinical concern that a coronary artery has an anomalous origin, other testing, such as cine-computed tomography, magnetic resonance imaging, or cardiac catheterisation may be indicated for confirmation or to provide greater anatomic detail.

Infants with coarctation of the aorta may have obstructions at other sites within the left heart which are not always apparent on the initial echocardiogram. The magnitude of the risk of having the additional obstructions is not well described, with few reliable quantitative criterions for identifying patients at the highest risk. We determined the frequency of additional, late appearing, stenotic lesions within the left heart, and the predictive morphologic features on the initial cross-sectional echocardiogram.

We identified all patients with coarctation of the aorta diagnosed by 3 months of age, excluding those with complex cardiac disease or definite additional stenotic lesions at presentation, leaving 101 patients for study. At follow-up, 31 stenotic lesions were diagnosed in 23 patients, 15 of whom had at least 1 intervention. Mitral stenosis was diagnosed in 11 patients, aortic stenosis in 10, subaortic stenosis in 8, and supravalvar aortic stenosis in 2. The probability for freedom from obstructive lesions was 81% at 1 year, 74% at 3 years, and 70% at 5 years. Echocardiographic predictors of mitral stenosis included smaller mitral valvar annuluses, presence of a mean transmitral gradient between 2.5 and 5.0 mmHg, and elongation of the area of intervalvar fibrous continuity. Predictors of aortic stenosis were smaller mitral valvar annuluses, an initial aortic valvar gradient between 15 and 20 mmHg, and obliteration of the commissure between the right and non-coronary leaflets of the aortic valve. Predictors of subaortic stenosis were smaller mitral valvar annuluses and elongation of the area of intervalvar fibrous continuity. Patients with Z-scores for the diameter of the mitral valve of less than −1 were at the highest risk for manifesting obstructive lesions at any level.

Associated stenoses in the left heart are common in the setting of aortic coarctation. When Doppler data is equivocal, features of the cross-sectional echocardiogram can identify the sub-group of infants at increased risk.

Cardiomyopathy is a rare disorder of the heart muscle, affecting 1.13 cases per 100,000 children, from birth to 18 years of age. Cardiomyopathy is the leading cause of heart transplantation in children over the age of 1. The Pediatric Cardiomyopathy Registry funded in 1994 by the National Heart, Lung, and Blood Institute was established to examine the epidemiology of the disease in children below 18 years of age. More than 3500 children across the United States and Canada have been enrolled in the Pediatric Cardiomyopathy Registry, which has followed-up these patients until death, heart transplantation, or loss to follow-up. The Pediatric Cardiomyopathy Registry has provided the most in-depth illustration of this disease regarding its aetiology, clinical course, associated risk factors, and patient outcomes. Data from the registry have helped in guiding the clinical management of cardiomyopathy in children under 18 years of age; however, questions still remain regarding the most clinically effective diagnostic and treatment approaches for these patients. Future directions of the registry include the use of next-generation whole-exome sequencing and cardiac biomarkers to identify aetiology-specific treatments and improve diagnostic strategies. This article provides a brief synopsis of the work carried out by the Pediatric Cardiomyopathy Registry since its inception, including the current knowledge on the aetiologies, outcomes, and treatments of cardiomyopathy in children.

In adults with Wolff-Parkinson-White syndrome, the likelihood of sudden death can be estimated based upon the presence or absence of symptoms. Comparable data in children do not exist. To date, therefore, invasive risk stratification has been used to guide management regarding radiofrequency ablation in symptomatic children. As the safety of electrophysiology study and radiofrequency ablation in children has improved, asymptomatic patients have been referred more commonly for invasive risk stratification. We sought to compare the findings from electrophysiologic studies in symptomatic children with Wolff-Parkinson-White syndrome to the findings in asymptomatic children with Wolff-Parkinson-White pattern on their electrocardiogram. Thus, we compared the findings from electrophysiologic studies carried out in patients seen at Stanford University and University of California, San Francisco, from April 1999 to February 2001 with a preexcitation pattern on their electrocardiogram. The patients were divided into three groups: 23 asymptomatic patients studied for risk stratification, 19 patients who presented with syncope, and 77 patients presenting with documented supraventricular tachycardia. Data were collected for commonly accepted invasive criterions for stratification of risk: an effective refractory period of the accessory pathway less than 270 ms, multiple pathways, septal location of pathway, and inducibility of supraventricular tachycardia. Groups were compared by chisquare. No differences were found between the groups for any of the variables. These data suggest that risk factors for sudden death, developed in studies of adult patients, are not clearly applicable to children. Further studies are needed better to define the indications for study and ablation in children.

Isolated noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy resulting from an arrest in normal endomyocardial embryogenesis. The diagnosis can be made echocardiographically, and the entity may be associated with problems of cardiac rhythm. We describe two illustrative cases, with Wolf-Parkinson-White syndrome in one, and left bundle branch block in the other. We emphasize that children with problems of rhythm and findings suggestive for left ventricular cardiomyopathy, either hypertrophic or dilated; should be investigated to exclude isolated noncompaction of the ventricular myocardium.