An aortopulmonary window is a communication between the ascending aorta and pulmonary trunk in the presence of two separate arterial valves, and is often complicated by other associated defects. We sought to determine management and related outcomes in patients with this malformation.

We identified those patients presenting between 1969 and 1999 from the databases held in our Departments of Cardiology, Pathology and Cardiovascular Surgery. We obtained data relating to issues concerning demography, clinical findings, imaging, management and outcome.

The median age at presentation for the 42 patients identified, of whom 23 were female, was 62 days, with a range from birth to 6 years. Associated cardiac defects were present in 34 patients, including interruption of the aortic arch in 6 patients. The correct diagnosis was initially missed in 13 patients. Of the patients, six died without surgical repair, and 1 patient was lost-to-follow-up. Repair was performed in 35 patients, subsequent to repair of other defects in 4, in association with repair of other defects in 17, of whom 3 died, and as an isolated procedure in 14 patients, one of the latter being treated by transcatheter closure. Overall, there were 9 deaths, all in patients with complex associated defects, except 1 patient with a missed aortopulmonary window after repair of aortic coarctation. Kaplan-Meier estimates of survival were 81% at 3 months until 11.5 years, and 69% up to 21 years. Only the presence of interrupted aortic arch was independently associated with increased time-related mortality, the hazard ratio being 5.87 (p = 0.009).

The outcome for an isolated lesion is excellent. Mortality occurs mainly before repair, mostly with complex associated lesions, particularly interruption of the aortic arch.

The recreational use of illicit drugs remains an enormous and growing problem throughout the United States of America and around the world. Cocaine is most frequently thought of when considering the cardiovascular toxicity of illicit drugs. The association of cocaine use with sudden death due to myocardial ischaemia and infarction is well recognised, and this risk appears to be amplified by concomitant cigarette smoking and alcohol consumption. Like cocaine, amphetamine and its derivatives lead to indirect stimulation of the autonomic nervous system through the release of norepinephrine, dopamine, and serotonin in nerve terminals of the central and autonomic nervous systems. However, amphetamine lacks the ion channel-blocking properties of cocaine. Also similar to cocaine, coronary artery spasm may be induced in individuals with or without atherosclerotic disease and may lead to myocardial infarction. With the movement across the United States of America to legalise marijuana, or cannabis, for medicinal and recreational purposes, it is important to consider its potential deleterious effects. Marijuana has long been thought to have very few adverse effects with the exception of long-term dependence. There are, however, scattered reports of acute adverse events up to and including sudden death. These appear to be due to myocardial infarction. In conclusion, the incidence of sudden death associated with the use of these drugs varies from rare in the case of marijuana use to not infrequent with some drugs such as cocaine. It is important for care providers to recognise the potential for drug abuse when caring for a sudden cardiac arrest survivor.

The function of the heart was studied in 20 asphyxiated term neonates by measuring the longitudinal peak systolic strain and peak systolic strain rate by tissue Doppler in 18 segments of the heart on days 1, 2, and 3 of life. The fractional shortening was assessed at each examination as well. Measurements were compared against measurements in 48 healthy term neonates examined by the same protocol. The function of the heart was lower in the asphyxiated neonates – peak systolic strain (mean (95% confidence interval) −19.4% (−20.4, −18.5), peak systolic strain rate −1.65 (−1.74, −1.56) per second) than in the healthy term neonates (peak systolic strain −21.7% (−22.3, −21.0), peak systolic strain rate −1.78 (−1.84, −1.74) per second; p < 0.001). Fractional shortening was similar in the asphyxiated (29.2% (26.8, 31.5)) and healthy term neonates (29.0% (27.9, 30.1); p = 0.874). The peak systolic strain differed significantly between the asphyxiated and healthy term neonates for the left basal and right basal groups of segments (p < 0.05) but not for the left apical, right apical, septum apical, or septum basal groups of segments. The peak systolic strain rate differed significantly only for the septum apical group of segments. The differences were largest on the second day of life. Measurements were similar in asphyxiated neonates with elevated and normal cardiac troponin T levels. The peak systolic strain and strain rate were in this study more sensitive indices than fractional shortening for assessing the reduced myocardial function in asphyxiated term neonates.

Optimising short- and long-term outcomes for children and patients with CHD depends on continued scientific discovery and translation to clinical improvements in a coordinated effort by multiple stakeholders. Several challenges remain for clinicians, researchers, administrators, patients, and families seeking continuous scientific and clinical advancements in the field. We describe a new integrated research and improvement network – Cardiac Networks United – that seeks to build upon the experience and success achieved to-date to create a new infrastructure for research and quality improvement that will serve the needs of the paediatric and congenital heart community in the future. Existing gaps in data integration and barriers to improvement are described, along with the mission and vision, organisational structure, and early objectives of Cardiac Networks United. Finally, representatives of key stakeholder groups – heart centre executives, research leaders, learning health system experts, and parent advocates – offer their perspectives on the need for this new collaborative effort.

Identity formation is a core developmental task in adolescence and functions as a key resource for transitioning to adulthood. This study investigated how adolescents with congenital cardiac disease form their identity and how it relates to demographic and medical parameters, quality of life, perceived health, depressive symptoms, and loneliness. A total of 429 adolescents aged 14–18 years with congenital cardiac disease and 403 matched controls completed questionnaires on identity and all outcome variables. There were five meaningful identity statuses, similar to those obtained in the control sample, which were found in the patient sample. Of them, two statuses – achievement and foreclosure – were characterised by a strong sense of identity; one status – diffused diffusion – especially was characterised by a weak sense of identity combined with high scores on worry about the future. These identity statuses were differentially related to outcome variables, with individuals in diffused diffusion especially scoring highest on depressive symptoms, problems in school, treatment anxiety, and communication problems with clinicians, and lowest on quality of life. Having a strong sense of personal identity was found to protect against such maladaptive outcomes. In sum, most adolescents with congenital cardiac disease moved through their identity formation process in a similar manner to other adolescents. Adolescents with a diffused identity were particularly at risk of experiencing maladjustment and problems in treatment adherence. Hence, developing intervention strategies to provide continuity of care on the road to adulthood involves paying attention to core developmental tasks, such as identity formation in adolescents with congenital cardiac disease.

In 2012, the American Heart Association and the American Academy of Paediatrics released a scientific statement with guidelines for the evaluation and management of the neurodevelopmental needs of children with CHD. Decades of outcome research now highlight a range of cognitive, learning, motor, and psychosocial vulnerabilities affecting individuals with CHD across the lifespan. The number of institutions with Cardiac Neurodevelopmental Follow-Up Programmes and services for CHD is growing worldwide. This manuscript provides an expanded set of neurodevelopmental evaluation strategies and considerations for professionals working with school-age children with CHD. Recommendations begin with the referral process and access to the evaluation, the importance of considering medical risk factors (e.g., genetic disorders, neuroimaging), and the initial clinical interview with the family. The neurodevelopmental evaluation should take into account both family and patient factors, including the child/family’s primary language, country of origin, and other cultural factors, as well as critical stages in development that place the child at higher risk. Domains of assessment are reviewed with emphasis on target areas in need of evaluation based on current outcome research with CHD. Finally, current recommendations are made for assessment batteries using a brief core battery and an extended comprehensive clinical battery. Consistent use of a recommended assessment battery will increase opportunities for research collaborations, and ultimately help improve the quality of care for families and children with CHD.

We reviewed 22 cases of primary pediatric cardiac tumors followed at our institution from January 1981 through November 1997, analyzing them by subtype, age and manner of presentation, location, associated findings, interventions, and clinical course. Rhabdomyomas were the most common (11), followed by intrapericardial teratomas (2), myxomas (1), fibromas (1), hemangiomas (1), mesotheliomas (1), and rhabdomyosarcomas (1), with 4 undetermined tumors. The majority (77%) of tumors were diagnosed before the age of one year, including six prenatally. The most common presentations were murmurs (5), arrhythmias (5), and abnormal screening fetal ultrasound examinations (4). Tumors were located most frequently in the right ventricle (13) and left ventricle (7), with multiple tumors being present in 10 cases. Eight patients (36%) had associated arrhythmias or conduction abnormalities, and of the 11 patients with rhabdomyomas, tuberous sclerosis was diagnosed in 8. Eight patients underwent cardiac catheterization, including two for electrophysiologic study with radiofrequency ablation, and seven patients had complete or partial tumor resection. The follow-up period ranged from 2 months to 15 years, and there were 3 tumor-related deaths. Therefore, despite the benign histology of most primary pediatric cardiac tumors, there may be significant associated morbidity and occasional mortality. As echocardiographic techniques such as fetal ultrasonography have continued to improve, however, these cardiac tumors have increasingly been detected early before significant symptoms develop.

We analyzed retrospectively the relationship between coagulation profile, and either hepatic function or hemodynamics, in patients who had undergone a Fontan-type procedure, comparing them, first, with a control group of 12 patients without significant hemodynamic abnormality, and, second, with a group of 14 patients who had not undergone a Fontan procedure, but whose mean right atrial pressure exceeded 8 mmHg. Follow-up catheterization had been performed in all 30 patients submitted to the Fontan-type operation. Prothrombin time, and factor XIII, were significantly lower in those who had undergone the Fontan procedure than in the other groups. Those submitted to the Fontan operation also had lower levels of protein C than controls, and their levels of plasminogen were lower than the patients with high right atrial pressure. Both aspartate aminotransferase and alanine aminotransferase were higher in those undergoing the Fontan procedure than in the other groups, while gamma-glutamyltranspeptidase in these patients was higher than in the control group. Mean right atrial pressure was highest in those under-going the Fontan procedure, while cardiac index was lowest. Prothrombin time was correlated to some extent with aspartate aminotransferase, mean right atrial pressure, and cardiac index. Protein C correlated with both aspartate aminotransferase and mean right atrial pressure, while factor XIII correlated with alanine aminotransferase, mean right atrial pressure, and cardiac index. Aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltranspeptidase, parameters of hepatic function, correlated significantly with mean right atrial pressure. In those who had undergone the Fontan procedure, decreased synthesis of pro-and anti-coagulant factors is a risk factor for both thrombosis and bleeding. Abnormal hemodynamics, in the absence of a right sided pumping chamber, may predispose to subclinical hepatic dysfunction, leading to selective disturbances of protein synthesis.

Congenital disorders of glycosylation are a group of inherited metabolic multisystem disorders characterized by defects in the glycosylation of proteins and lipids. In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder.

From the literature, we identified six children with congenital disorders of glycosylation associated with cardiac disease. We then screened for cardiovascular manifestations 20 patients diagnosed with congenital disorders of glycosylation at our own institution.

Of the 6 patients identified in the literature, 4 had hypertrophic cardiomyopathy, while in the other 2 the cardiac diagnosis was unclear. The mean age at cardiac diagnosis was 5 months, with a range from 34 weeks to 24 months. Of the patients, five had died at a mean age of 3.5 months, with a range from 1.5 to 6 months, with one documented cardiac death. Three of our 20 patients (15%) had coexistent cardiomyopathy, and in three additional patients presenting with cardiomyopathy we made the diagnosis of a congenital disorder of glycosylation. In our cohort, dilated cardiomyopathy was found in two-thirds of the patients, with hypertrophic cardiomyopathy in the other third. The mean age at cardiac diagnosis was 19 months, with a range from 0.5 to 84 months. Of these patients, two died in infancy at a mean age of 4 months, specifically at 1.5 and 7 months, due to cardiac disease, with one dying suddenly. The remaining four patients are alive with minor to severe cardiac dysfunction.

We conclude that congenital disorders of glycosylation have to be considered in the differential diagnosis of children presenting with cardiomyopathy, and that all patients with congenital disorders of glycosylation should be screened for an associated cardiomyopathy. Cardiac involvement contributes significantly to morbidity and mortality, and probably to sudden cardiac death in this disorder.

Device closure of oval fossa atrial scptal defects with the Amplatzer Septal Occluder was performed in 26 patients ranging in age from 0.89 to 60.44 years. In eight additional patients no device implant was performed because of the presence of multiple defects or because the defect was of a size unsuitable for closure with the devices currently available. The strectched diameter of the defects that were closed ranged from 4 to 23 mm (mean 14±5.4 mm) and device sizes ranged from 4 to 24 mm. Two devices were unstable, of which one embolized to the right atrium after release. Both devices were retrived at the same procedure. One of these parients subsequently underwent a successful device closure of his defect using a larger (24-mm) device. Three patients had multiple defects, which were successfully closed with a single device. At 1-month follow-up 23/26 (88%) and at 3-month follow-up 22/24 (92%) patients had complete closure of their defects, while two had residual shunts. One further patient who had complete closure of his defect at 1-month post-implant had his device removed and his atrial septal defect patched surgically 8 weeks after device closure. This was done as a result of the development of a vegetation affecting the device after an episode of septicaemia, which was not relate to the cardiac problems. There was no procedure-related morbidty or martality and all patients remain well at the present time.

Noncompaction of the ventricular myocardium, sometimes referred to as “spongy myocardium”, appears as excessive and prominent trabeculations and deep intratrabecular recesses within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular septum can also be affected. It may occur with or without additional heart malformations. Roifman syndrome is a constellation of antibody deficiency, spondyloepiphyseal dysplasia, facial dysmorphism, growth retardation, and retinal dystrophy. We report a patient with Roifman syndrome who presented with noncompaction of the left ventricular myocardium. Our findings expand the spectrum of diseases associated with noncompaction. The recognition of noncompaction among patients with Roifman syndrome is important, as the immune deficiencies may be subtle and undiagnosed until adulthood. Thus, some patients may first present with cardiac failure.

The Fontan operation, originally described for the surgical management of tricuspid atresia, is now the final surgery in the strategy of staged palliation for a number of different forms of congenital cardiac disease with a functionally univentricular heart. Despite the improved technical outcomes of the Fontan operation, staged palliation does not recreate a normal physiology. Without a pumping chamber delivering blood to the lungs, the cardiovascular system is less efficient; cardiac output is generally diminished, and the systemic venous pressure is increased. As a result, patients with “Fontan physiology” may face a number of rare but potentially life-threatening complications including hepatic dysfunction, abnormalities of coagulation, protein-losing enteropathy, and plastic bronchitis. Despite the staged palliation resulting in remarkable survival, the possible complications for this group of patients are complex, involve multiple organ systems, and can be life threatening. Identifying the mechanisms associated with each of the rare complications, and developing strategies to treat them, requires the work of many people at many institutions. Continued collaboration between sub-specialists and between institutions will be required to optimise the care for this group of survivors with functionally univentricular hearts.

We describe the prevalence of extra-cardiac anomalies in children with congenital cardiac malformations, and their impact on survival, compared to the outcome in children with the congenital cardiac lesions as the only recognised anomaly.

Our population comprises the 3527 children born with congenital cardiac anomalies between 1990 and 1999, and registered at the largest tertiary centre for Paediatric Cardiology in Norway. Extra-cardiac anomalies were found in one-fifth of the population, with Down's syndrome accounting for nearly one-third. Survival improved for children born between 1995 and 1999 compared with those born in the period from 1990 to 1994 for all groups, except for children with additional extra-cardiac anomalies in the absence of Down's syndrome. The results were the same for children undergoing surgical treatment of their cardiac malformation. The survival in children with Down's syndrome improved in comparable fashion to those without extra-cardiac anomalies. Children with extra-cardiac anomalies in the absence of Down's syndrome represent a heterogeneous group, with varying patterns of survival. Survival did not improve in these latter patients during the period of our study.

We designed a pilot study of a training module for nurses to perform rheumatic heart disease echocardiography screening in a resource-poor setting. The aim was to determine whether nurses given brief, focused, basic training in echocardiography could follow an algorithm to potentially identify cases of rheumatic heart disease requiring clinical referral, by undertaking basic two-dimensional and colour Doppler scans. Training consisted of a week-long workshop, followed by 2 weeks of supervised field experience. The nurses’ skills were tested on a blinded cohort of 50 children, and the results were compared for sensitivity and specificity against echocardiography undertaken by an expert, using standardised echocardiography definitions for definite and probable rheumatic heart disease. Analysis of the two nurses’ results revealed that when a mitral regurgitant jet length of 1.5 cm was used as the trigger for rheumatic heart disease identification, they had a sensitivity of 100% and 83%, respectively, and a specificity of 67.4% and 79%, respectively. This pilot supports the principle that nurses, given brief focused training and supervised field experience, can follow an algorithm to undertake rheumatic heart disease echocardiography in a developing country setting to facilitate clinical referral with reasonable accuracy. These results warrant further research, with a view to developing a module to guide rheumatic heart disease echocardiographic screening by nurses within the existing public health infrastructure in high-prevalence, resource-poor regions.