For children with hypoplastic left heart syndrome, contemporary management over three stages includes a window of high risk for sudden death between the initial stage of palliation, the Norwood operation itself, and the second stage, creation of the bidirectional superior cavopulmonary connection. The risk is highest at a time when patients have been discharged from the hospital to grow and prepare for the second stage,1–4 and has persisted despite the remarkable improvements in immediate postoperative and hospital survival after the initial surgery.5,6 Potential contributing factors to the increased vulnerability to sudden death between the stages include the limited circulatory reserve inherent in the parallel circulations supported by a functionally univentricular heart, the reliance on a prosthetic shunt which is susceptible to thrombosis, and congenital or acquired anatomical cardiovascular abnormalities such as aortic atresia, residual obstruction in the aortic arch, tricuspid valvar insufficiency, or right ventricular dysfunction.7–12

Congenitally corrected transposition is a complex cardiac lesion that is often associated with ventricular septal defect, obstruction of the outflow tract of the morphologically left ventricle, and abnormalities of the morphologically tricuspid valve.1,2 Nomenclature for this lesion has been variable and confusing.1 In this review, we define, and hopefully clarify this terminology. The lesion is a combination of discordant union of the atrial chambers with the ventricles, and the ventricles with the arterial trunks.1,2 In rare circumstances, discordant atrioventricular connections can be associated with concordant ventriculo-arterial connections. This malformation has been called “isolated ventricular inversion”. The term is less than precise, and the descriptive approach using the phrase “discordant atrioventricular connections with concordant ventriculo-arterial connections” is preferred, as discussed below.

To determine the cardiac response to intensive endurance training during prepuberty, we studied 22 male prebubertal swimmers who had been trained for at least 3 years, with a mean of 3.91 years and a standard deviation of 1.10 years, and 8 hours per week, the mean being 10.0 hours and the standard deviation 1.7 hours. The control group consisted of 21 boys of similar age, height and weight (p is more than 0.05 for all), who were not participating regularly in sporting activities. Left ventricular dimensions and systolic function were examined with M-Mode; velocities and durations of transmitral flow were measured with pulsed wave Doppler; and tissue Doppler velocities and durations were measured with pulsed wave tissue Doppler echocardiography. We determined the regional velocities of the lateral mitral annulus in four-chamber position, the left ventricular posterolateral wall, and the midseptum in long-axis position. Interventricular septal thickness, left ventricular posterior wall thickness, left ventricular mass and relative wall thickness were increased in swimmers (p is less than 0.05). All the tissue Doppler measurements were similar in both groups, except the septal isovolumic relaxation time. We observed that the left ventricular wall thickness had increased concentrically in prepubertal swimmers compared to controls, without a significant change in the left ventricular diastolic diameter. This finding is contrary to the previous studies on adult swimmers. Whether the structural changes observed in our study reflect the unique cardiac adaptation of the hearts of children to exercise will only be disclosed by longitudinal studies of prepubertal athletes.

A 15-month-old boy presented with asymptomatic hypoxaemia due to right-to-left venous shunting via a left superior caval vein emptying into the left atrium, in absence of right superior caval vein. The diagnosis, suspected by contrast echocardiography, was confirmed by computed tomography and angiography. The child underwent surgical correction of the systemic anomalous return by tunnelling the left superior caval vein towards the right atrium. An asymptomatic narrowing inside the intra-atrial baffle developed 6 months later.

It was in 1971, Fontan and Baudet1 published their experience using a surgical procedure to restore a physiologic circulation in three patients with tricuspid atresia. Of the three patients, two survived, thus ushering a new era in the treatment of children with complex forms of congenital cardiac disease. This operation itself, however, was the culmination of a series of experimental and clinical observations that underlined the clinical possibility totally to bypass the right side of the heart.

Surgical waiting lists are of high importance in countries, where the national health system is unable to deliver surgical services at a rate that would allow patients to avoid unnecessary periods of waiting. Prioritization of these lists, however, is frequently arbitrary and inconsistent.

The objective of our research was to analyze the medical decision-making process when prioritizing patients with congenital cardiac malformations for cardiac surgical procedures, identifying an appropriate representation of knowledge, and transferring this knowledge onto the design and implementation of an expert system (“PrioHeart”).

The medical decision-making process was stratified into three stages. The first was to analyze the details of the procedure and patient to define important impact factors on clinical priority, such as the risk of adverse events. The second step was to evaluate these impact factors to define an appropriate “timing category” within which a procedure should be performed. The third, and final, step was to re-evaluate the characteristics of individual patients to differentiate between those in the same timing category.

We implemented this decision-making process using a rule-based production system with support for fuzzy sets, using the FuzzyCLIPS inference engine and expert system shell as a suitable development environment for the knowledge base.

The “PrioHeart” expert system was developed to give paediatric cardiologists a tool to allow and facilitate the prioritization of patients on the cardiosurgical waiting list. Evaluation of “PrioHeart” on limited sets of patients documented appropriate results of prioritization, with a significant correlation between the prioritization made using “PrioHeart” and those results obtained by the individual consultant specialist.

We conclude that our study has demonstrated the feasibility of using an expert system approach with a fuzzy, rule-based production system to implement the prioritization of cardiac surgical patients. The approach may potentially be transferable to other medical subspecialities.

We report the first case, to the best of our knowledge, of a child with the unusual association of Moya-Moya disease and both systemic and pulmonary hypertension. Histological examination revealed fibromuscular dysplasia as the common denominator for a diffuse arteriopathy.

Infants who survive open-heart surgery are at risk for developmental disability, which may impact on the well-being not only of the child, but also the family. The objective of our prospective study, therefore, was to determine the long-term health-related quality of life of children with congenital cardiac malformations following open-heart surgery, and to describe the persisting level of stress in their families. To this end, 49 parents completed the Child Health Questionnaire, the Parenting Stress Index, and the Child Behaviour Checklist as part of a developmental follow-up protocol when their child was 5 years of age. Mean scores on the Child Health Questionnaire were in the normal range, with physical well-being equal to 53.5, psychosocial well-being 50.9, with only 6.4 percent and 8.5 percent of subjects, respectively, falling within the suboptimal range of less than 40. The distribution of scores on the Parenting Stress Index, however, were more variable, with over one-quarter of parents indicating a high level of stress, with almost one-fifth having low levels of stress, and just over half scoring in the normal range, with the group mean being 52.6 plus or minus 32.3. An abnormal neurologic examination before surgery was associated with lower physical health (β equal to −5.5, p equal to 0.02, r2 equal to 0.18), whereas lower arterial saturations of oxygen, less than 85 percent preoperatively, was associated with lower psychosocial health (β equal to −6.6, p equal to 0.01, and r2 equal to 0.14). The internalizing and externalizing behaviours of the child were significantly correlated with psychosocial well being, with r ranging from −0.32 to −0.52, and p less than 0.05. Parental stress also correlated with psychosocial health (r equal to −0.48 and p equal to 0.0009). Overall, the perception by the parents of the health-related quality of life of their child is favourable 5 years following open-heart surgery during infancy. Many parents, nonetheless, continue to feel either stressed or defensive about their child, particularly if their child exhibits behavioural difficulties. Our findings suggest that strategies need to be considered to enhance family well-being in the planning and delivery of health services to this population at high risk.

A congenital fistulous connection between the right pulmonary artery and the left atrium is a rare condition, resulting in early cyanosis and cardiac failure. These patients usually required urgent surgery. We present a neonate in whom we successfully closed such a large fistula via catheterization with an Amplatzer Duct Occluder, resulting in rapid clinical improvement, and obviating the need for surgical repair.

The purpose of the study was to develop a questionnaire measuring health-related R1 quality of life for children and adolescents with congenital heart disease, the ConQol, that would have both clinical and research applications. We describe here the process of construction of a questionnaire, the piloting and the development of a weighted scoring system, and data on the psychometric performance of the measure in a sample of 640 children and young people recruited via 6 regional centres for paediatric cardiology from across the United Kingdom. The ConQol has two versions, one designed for children aged from 8 to 11 years, and the other for young people aged from 12 to 16 years. Initial findings suggest that it is a valid and reliable instrument, is acceptable to respondents, and is simple to administer in both a research and clinical context.

Objective: Increasing rates of survival have raised the question of medical and psychosocial factors contributing to quality of life of patients with congenital cardiac disease. We investigated the impact of the severity of disease, and social disadvantage, on the quality of life of patients and their primary caregivers. Methods: One hundred and thirty two families participated in a computer-assisted evaluation of their quality of life in a German outpatient centre for paediatric cardiac diseases. Quality of life for the patients was evaluated by a multi-dimensional proxy-measure. The quality of life of the caregivers was evaluated by a multi-dimensional self-reporting measure. Severity of the disease was evaluated by the responsible paediatrician. Social disadvantage was defined as single-parent status, ethnic minority status, unfinished parental education or professional training, and/or unemployment. Analyses of variance were calculated with mild, moderate, or severe forms of disease, and risk as opposed to no risk for social status, both factors being treated independently, and the quality of life of the patients and their caregivers as dependent variables. Results: We demonstrated significant effects of the severity of disease on the quality of life of the children, and of social disadvantage on the quality of life of both the children and their parents. A significant interactive effect indicated a cumulative negative impact of the severity of the disease and social disadvantage on the quality of life of the patients. Conclusion: Programmes providing psychosocial support for children with cardiac disease and their caregivers should consider risk factors which are both medical and social.

We report a case in which a meandering right pulmonary vein connecting to the left atrium is associated with hypoplasia of the right lung, horseshoe lung, abnormal pulmonary lobation, and abnormal branching of the pulmonary arteries. We discuss its relationship to the so-called scimitar variant, and to the scimitar syndrome itself.

In spite of significant improvements in outcome, adults surviving the Mustard procedure continue to be at risk of premature death, cardiac failure, and arrhythmias. Primary ventricular fibrillation as a cause of sudden death in these patients may not be uncommon, and implantation of a defibrillator should be considered, particularly if there is systemic ventricular dysfunction and pre-existing heart block.

The heterotaxy syndromes are characterized by a high incidence of cardiac anomalies of extreme heterogeneity. Due to this, the surgical management is varied and challenging. Although a minority of patients can undergo biventricular repair, the complexity of the cardiac defects, and the high incidence of ventricular hypoplasia, mandate a surgical approach in the majority of patients depending on the creation of a functionally univentricular heart. Traditionally, the functionally univentricular approach was associated with a high mortality. More recently, the results have been improving as a result of better understanding of these malformations, and logical improvements in surgical technique. In this review, we will make brief comments on the nomenclature and classification of the heterotaxy syndromes, and the range of cardiac anomalies, before concentrating on the surgical treatment for those patients having functionally univentricular hearts in the setting of heterotaxy. More specifically, we will review initial palliation in early life, creation of the cavopulmonary anastomoses, including the Kawashima procedure and the Fontan circulation, and the role of transplantation.

The congenital cardiac malformation characterized by discordant connections between the atriums and ventricles, as well as those between the ventricles and the arterial trunks, has been given many names. The terms atrioventricular discordance, l-transposition of the great arteries, ventricular inversion, and congenitally corrected transposition have all been used. Regardless of terminology, this complex congenital anomaly has only recently been studied to analyze the long-term effects of its natural history and outcomes following traditional surgical repair of the associated malformations which serve to uncorrect the circulatory pathways. As more patients survive into adulthood, the effects of this condition are now better understood, and the surgical approaches used in the past are being re-examined in light of longer-term follow up.

The combination of hypoplastic left heart syndrome and a right-sided aortic arch is extremely rare and lethal. To the best of our knowledge, no patient with this combination has previously been reported as surviving initial palliation. The anatomic variant is associated with abnormalities in the arteries branching from the aortic arch, making it difficult to construct a reliable source of flow of blood to the lungs. We present here a patient with this combination who survived an initial Damus-Kay-Stansel procedure combined with placement of a conduit from the right ventricle to the pulmonary arteries, and who has subsequently undergone a successful bidirectional cavopulmonary anastomosis. We believe that the conduit placed from the right ventricle provides the most reliable source of flow of blood to the lungs at the time of initial palliation in this usual combination of cardiac lesions.

We report a neonate presenting with an intrapericardial benign teratoma and an exceptionally high level of alpha-fetoprotein. Such severe elevation of alpha-fetoprotein in a neonate with a teratoma is usually associated with the presence of immature or malignant elements, compromising the prognosis. The tumour in our patient, however, proved to be completely benign. We discuss recent findings with regard to normal levels of alpha-fetoprotein levels in preterm infants, and in children with neonatal teratomas.

The classical option for surgical repair in patients with congenitally corrected transposition takes advantage of the physiologic correction provided by nature. At the end of the surgical procedures, however, the morphologically right ventricle remains as the systemic ventricle. Surgical intervention is essentially the correction of associated lesions, including closure of ventricular septal defects, pulmonary valvotomy, placement of a conduit from the morphologically left ventricle to the pulmonary arteries, replacement of the morphologically tricuspid valve, and placement of pacemakers for third degree atrioventricular block. For many years, the classical approach was the “standard” surgical approach.1–4 More recently, newer alternatives have become available, including forms of anatomic repair, the “one-and-a half” ventricular option, and conversion to the Fontan circulation. The goal of anatomic repair is to craft connections such that the morphologically left ventricle becomes the systemic ventricle. Surgical techniques that accomplish this are a Rastelli procedure combined with an atrial baffle,5 and the combination of an arterial switch with an atrial baffle, be it a Mustard or Senning procedure.6