We investigated the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a median age of 1.7 years, with a range from 0.7 to 11.1 years. Cardiac lesions were present in five children (83%), specifically complete transposition, tetralogy of Fallot, coarctation of the aorta, ventricular septal defect, and patency of the arterial duct. Characteristic dysmorphic findings were noted in all patients, as well as a strong predisposition to severe problems with feeding in the neonatal period, and developmental delay. Cardiologists should be alert to this syndrome in children who present with the aforementioned constellation of findings, as patients with mild expression of Kabuki syndrome may go unrecognized for a considerable time.

Real-time three dimensional echocardiography is increasingly used for imaging patients with congenital cardiac malformations. One of the limitations of a transthoracic approach is that intervening structures can impact on the quality of the images obtained. We hypothesised that, during surgery, epicardial three-dimensional echocardiography would provide images of high quality. We report our findings in eight children or young adults, with weights ranging from 2.8 to 70 kilograms, in whom we used this approach. In all cases, we obtained images of good quality, which could be analysed rapidly in the operating room. Of the eight cases, seven had echocardiographic findings which matched exactly the surgical findings. The remaining child had been diagnosed echocardiographically with a cleft in the aortic leaflet of the mitral valve, but was found at surgery to have a double orifice in the valve.

Objectives: The Ross procedure is increasingly utilized in the treatment of aortic valvar disease in children and adolescents. Our purpose was to compare pre- and post-operative exercise state in this population. Methods: We included patients who underwent the Ross procedure at our institution between January, 1995, and December, 2003, and in whom we had performed pre- and post-operative exercise stress tests. We used a ramp bicycle protocol to measure consumption of oxygen and production of carbon dioxide. Cardiac output was estimated from effective pulmonary blood flow by the helium acetylene re-breathing technique. Results: We studied 26 patients, having a median age at surgery of 15.7 years, with a range from 7.5 to 24.1 years. The primary indication for surgery in two-thirds was combined aortic stenosis and insufficiency. Median time from the operation to the post-operative exercise stress test was 17.4 months, with a range from 6.7 to 30.2 months. There was a trend toward lower maximal consumption of oxygen after the procedure, at 36.3 plus or minus 7.6 millilitres per kilogram per minute (83.9% predicted) as opposed to 38.6 plus or minus 8.4 millilitres per kilogram per minute (88.5% predicted, p equal to 0.06). Patients after the procedure, however, had significantly increased adiposity, so that there was no difference in maximal consumption of oxygen indexed to ideal body weight before and after the operation. In 20 of the patients, aerobic capacity improved or was stable after the operation. There was no post-operative chronotropic impairment. Conclusions: In the majority of patients following the Ross procedure, exercise performance is stable and within the normal range of a healthy age and sex matched population, despite sedentary lifestyles and increased adiposity.

Procalcitonin appears to be an early and sensitive marker of bacterial infection in a variety of clinical settings. The use of levels of procalcitonin to predict infection in children undergoing cardiac surgery, however, may be complicated by the systemic inflammatory response that normally accompanies cardiopulmonary bypass. The aim of our study was to estimate peri-operative concentrations of procalcitonin in non-infected children undergoing cardiac surgery. Samples of serum for assay of procalcitonin were obtained in 53 patients at baseline, 24, 48, and 72 hours following cardiac surgery. Concentrations were assessed using an immunoluminetric technique. Median concentrations were lowest at baseline at less than 0.5 nanograms per millilitre, increased at 24 hours to 1.8 nanograms per millilitre, maximized at 48 hours at 2.1 nanograms per millilitre, and decreased at 72 hours to 1.3 nanograms per millilitre, but did not return to baseline levels. Ratios of concentrations between 24, 48 and 72 hours after surgery as compared to baseline were 6.15, with 95 percent confidence intervals between 4.60 and 8.23, 6.49, with 95 percent confidence intervals from 4.55 to 9.27, and 4.26, with 95 percent confidence intervals between 2.78 and 6.51, respectively, with a p value less than 0.001. In 8 patients, who had no evidence of infection, concentrations during the period from 24 to 72 hours were well above the median for the group. We conclude that concentrations of procalcitonin in the serum increase significantly in children following cardiac surgery, with a peak at 48 hours, and do not return to baseline within 72 hours of surgery. A proportion of patients, in the absence of infection, had exaggerated elevations post-operatively.

Fenestration is still widely used in right heart bypass operations. Our study was conducted to assess its need in the most recent modification, the completion of a total cavopulmonary connection with an extracardiac tube.

The extracardiac approach was introduced at our institution in January, 1999. Since June of 2000, no patient had a fenestration. If more than 1 risk factor amongst ventricular function being more than moderately impaired, atrioventricular valvar regurgitation more than moderate, mean pulmonary arterial pressure more than 15 millimetres of mercury, mean atrial pressure higher than 12 millimetres of mercury, pulmonary arterial distortion, or other than sinus rhythm was present preoperatively, the patient was considered a “high risk” candidate. Postoperatively elevated pulmonary arterial pressure higher than 16 millimetres of mercury, prolonged effusions and requirement for drainage longer than 7 days, and death were considered endpoints in the statistical analysis.

Our study group included 84 patients who underwent surgery up to August, 2004. A previous bidirectional cavopulmonary anastomosis had been accomplished in 73 patients at a mean age of 27.01 plus or minus 32.60 months, with a median of 11.5 months, without creating an additional source of flow of blood to the lungs.

At the time of the total cavopulmonary connection, the mean age was 66.4 plus or minus 60.1 months, with a median of 37.1 months, and a range from 17.3 to 251.2 months, with 50 patients being younger than 48 months.

We deemed 16 patients to be at “high risk”. These patients were older at the time of bidirectional cavopulmonary anstomosis (p smaller than 0.016), at the time of completion (p smaller than 0.019), and also differed in size at time of completion (p smaller than 0.020). They required a longer time on cardiopulmonary bypass (p smaller than 0.015), and reached higher early postoperative pulmonary arterial pressures after completion (p smaller than 0.025). There were no differences between groups of patients having up to 1 or more risk factors in regard to need for intubation (p smaller than 0.511), pulmonary arterial pressures after extubation (p smaller than 0.817), and duration of chest drainage (p smaller than 0.650). Three patients died, one in the group deemed at high risk. There was no death in the last 38 patients.

We conclude that a total cavopulmonary connection with an extracardiac tube can be performed without fenestration, even if the patients are deemed to be at increased risk. Early staging of patients with functionally univentricular physiology might be one of the keys for these findings.

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.

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 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.

We report an infant with hypoplastic left heart syndrome consisting of mitral valvar atresia, aortic valvar atresia, hypoplasia of the aortic arch and coarctation of the aorta, who demonstrated respiratory failure and global hypotonia, and who was eventually diagnosed with spinal muscular atrophy.

In the United Kingdom, there has been a steady decline in the number of conventional autopsies performed in children. For cardiovascular disease, structural and not pathological considerations are often more important in defining the cause of death. Magnetic resonance imaging is now often used in the assessment of congenital cardiac malformations during life. In this case report, we demonstrate how post-mortem magnetic resonance imaging was able to establish the diagnosis of aortic rupture in a patient who had undergone surgical repair of aortic interruption. In this patient, the parents had declined conventional histopathological autopsy, but were happy to consent to magnetic resonance post-mortem assessment.

Oral sildenafil has been demonstrated to be an effective treatment for pulmonary hypertension, and is increasingly used in children. We report an infant with pulmonary hypertension, stable on regular treatment with oral sildenafil, who presented in acute respiratory failure after aspiration, requiring ventilation and intensive care. The course of the stay in intensive care was difficult, with recurrent pulmonary hypertensive crises despite use of oral sildenafil, use of 100% oxygen, high frequency oscillatory ventilation, and inhaled nitric oxide. In view of his instability, and the presumed inability to absorb the sildenafil orally due to gastrointestinal malabsorption, sildenafil was administered as a continuous intravenous infusion. With this therapy, it proved possible to wean from oxygen, nitric oxide, and ventilatory support. Intravenous sildenafil, therefore, might be an effective alternative for children with pulmonary hypertension during episodes of acute deterioration and malabsorption, preventing life-threatening pulmonary hypertensive crises. Its pharmacokinetics, efficacy, and safety, nonetheless, need to be validated in randomized controlled trials.

Iatrogenic thrombosis within the heart is rare following intracardiac operations. We undertook surgery to correct a 30-month-old girl with Fallot's tetralogy. After a period of 6 months following the operation, echocardiography revealed a thrombus measuring 16 by 12 millimetres attached to the tendinous cords supporting the antero-superior leaflet of the tricuspid valve. Medical treatment having failed, we proceeded to surgical excision so as to avoid pulmonary embolisation. Histological examination confirmed the thrombotic nature of the mass.

A baby presented at term with respiratory distress was managed with extracorporeal membrane oxygenation. Bronchoscopy revealed tracheal hypoplasia, complete tracheal rings, and agenesis of the right main bronchus. Echocardiography showed a left pulmonary arterial sling arising from the proximal part of the right pulmonary artery. Cardiac catheterization demonstrated abnormal pulmonary vasculature in the left lung which would have prevented survival, even after surgical repair. Diagnostic catheterization was important in delineating the anatomy, and aided in the decision not to proceed with surgical repair.

We describe the findings in a six-year-old girl who presented with signs of left atrioventricular valvar insufficiency. The echocardiogram showed a common atrioventricular junction, intact atrial and ventricular septal structures. At surgery, the left-sided atrioventricular valve was found to be tri-foliate, and corrected by valvoplasty. To the best of our knowledge, this is the first case of atrioventricular septal defect with common atrioventricular junction and intact septal structures diagnosed during life.