We investigated extra-cardiac clinical symptoms and signs in the rare Jervell and Lange-Nielsen Syndrome, characterised by impaired KCNQ1 function, a gene essential for gastric acid secretion.

All Swedish Jervell and Lange-Nielsen cases with double KCNQ1 mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers.

A history of iron-deficiency anaemia in 12 of 14 patients and subjective gastrointestinal symptoms in 13 of 14 patients was revealed. Previous endoscopy in five cases had revealed no case of coeliac or inflammatory bowel disease but three cases of mucosal hyperplasia/dysplasia. Current signs of anaemia or iron substitution were present in 9 of 12 tested cases. Elevated levels of gastrin in seven of nine cases, pepsinogen in six of seven cases, and faecal calprotectin in nine of nine cases were present. A significant correlation between elevated gastrin levels and concurrent iron-deficiency and/or anaemia was revealed (p-value 0.039).

A high frequency of extra-cardiac clinical symptoms and previous medical investigations was found. We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis of KCNQ1 mutations. The resultant elevated gastrin level is a potential risk factor for later gastrointestinal cancer. Clinical monitoring with regard to developing anaemia and hypergastrinaemia should be considered in the Jervell and Lange-Nielsen Syndrome.

A superior cavopulmonary connection is commonly performed before the Fontan procedure in patients with a functionally univentricular heart. Data are limited regarding associations between a prior superior cavopulmonary connection and functional and ventricular performance late after the Fontan procedure.

We compared characteristics of those with and without prior superior cavopulmonary connection among 546 subjects enrolled in the Pediatric Heart Network Fontan Cross-Sectional Study. We further compared different superior cavopulmonary connection techniques: bidirectional cavopulmonary anastomosis (n equals 229), bilateral bidirectional cavopulmonary anastomosis (n equals 39), and hemi-Fontan (n equals 114).

A prior superior cavopulmonary connection was performed in 408 subjects (75%); the proportion differed by year of Fontan surgery and centre (p-value less than 0.0001 for each). The average age at Fontan was similar, 3.5 years in those with superior cavopulmonary connection versus 3.2 years in those without (p-value equals 0.4). The type of superior cavopulmonary connection varied by site (p-value less than 0.001) and was related to the type of Fontan procedure. Exercise performance, echocardiographic variables, and predominant rhythm did not differ by superior cavopulmonary connection status or among superior cavopulmonary connection types. Using a test of interaction, findings did not vary according to an underlying diagnosis of hypoplastic left heart syndrome.

After controlling for subject and era factors, most long-term outcomes in subjects with a prior superior cavopulmonary connection did not differ substantially from those without this procedure. The type of superior cavopulmonary connection varied significantly by centre, but late outcomes were similar.

We sought to describe the evaluation, treatment, and follow-up of adolescents who presented to a single institution with chest pain and an elevated troponin I value in the absence of typical symptoms of pericarditis or myocarditis.

We performed a retrospective review of patients in the age group of 10–18 years of age with no history of significant heart disease admitted to our institution from 2000 to 2010 after presenting with chest pain and an elevated troponin I value.

A total of 16 patients were identified with a median age of 16.5 years (range 11.2–17.8 years). Of these 13 (81%) were male and 10 (63%) showed evidence of localised ST elevations on electrocardiogram. The median peak troponin I level was 17.8 nanograms per millilitre (range 0.89–227, normal less than 0.4). There were eight patients (50%) with a diagnosis of coronary vasospasm, three patients (20%) with atypical myopericarditis, one patient with coronary anomaly, one patient with hypercoagulable disorder, and one patient with prolonged supraventricular tachycardia. In two patients, no definitive diagnosis was made. There was one patient who needed catheter-based intervention, which involved stenting of a coronary artery after a procedure-related complication.

In our cohort of adolescents without history of significant cardiac disease, chest pain and elevated troponin I levels were attributed to a variety of causes. Although coronary vasospasm and atypical myopericarditis were seen most commonly, coronary anomaly was identified in one case. Magnetic resonance imaging proved a useful diagnostic tool to assess coronary artery anatomy and myocardial changes suggestive of myocarditis. On the basis of these results and a review of the literature, a general evaluation algorithm is presented.

Chest pain is a common presenting complaint to paediatrics, paediatric cardiology, and paediatric emergency departments. In this study, we prospectively evaluated clinical characteristics and causes of chest pain in children referred to our paediatric cardiology unit.

A total of 380 children were included. Associated symptoms and past and family histories were evaluated. All patients underwent physical examination. The following studies were performed: complete blood count in all patients; fasting lipid profiles in overweight and obese children and children with a family history of premature cardiovascular disease; and electrocardiogram, chest X-ray, and echocardiogram in all patients. If necessary, 24-hour electrocardiogram monitoring or exercise stress tests were performed. Patients with a history of positive psychological findings were evaluated by a child psychiatrist.

The most common causes of chest pain were musculoskeletal disorders (37.1%), idiopathic chest pain (29.2%), and miscellaneous disorders, for example precordial catch syndrome (15%), respectively. Only 1 of 380 (0.3%) patients had chest pain due to a cardiac disorder. Electrocardiograms were abnormal in 4 of 380 (1.1%) patients. A total of 9 of 380 patients (2.3%) had dyslipidaemia.

Although a paediatric cardiology referral may provide reassurance to the primary care and emergency department physicians, our results show that cardiac aetiologies for paediatric chest pain are very rare. We think that many patients in our study were adequately evaluated only by careful history, and physical examination. Therefore, we suggest that it may not be necessary to use echocardiogram in the routine evaluation of children with chest pain.

To assess behavioural problems in adolescents with congenital and acquired heart disease in comparison with healthy controls. The perception of behavioural problems by the patients’ parents was also assessed and compared.

A cross-sectional study was carried out in 130 adolescents with congenital and acquired heart disease and 246 healthy controls. The second part of the Youth Self-Report was applied to the patients and controls, and the Child Behavior Checklist to the patients’ parents.

Male patients showed significantly fewer behavioural problems compared with male controls. No significant difference was found in the female gender. Healthy male adolescents scored significantly higher in the Internalising, Externalising, and in the Total Problems scales. Patients scored significantly higher only on the Social Problems subscale. Female patients in middle and late adolescence and male patients in early adolescence displayed more problems. No significant difference was found between the diagnostic groups. Operated patients did not differ from the non-operated ones. Patients scored significantly lower than did their parents.

Male adolescents with cardiac disease reported fewer behavioural problems when compared with healthy controls, but no difference was observed in the female gender. Patients also reported fewer behavioural problems than did their parents. Adolescents with cardiac disease scored higher than did controls only on the Social Problems subscale. Analysing the patients’ behavioural profile, female patients in middle and late adolescence and male patients in early adolescence were the most problematic ones. No difference was observed between the diagnostic groups, nor between operated and non-operated patients.

To describe our experience in the management of coronary artery anomalies both in an adult and in a paediatric population and to compare the two groups for finding out differences in terms of angiographic incidence and treatment.

Databases at the Department of Cardiology of San Martino Adult's Hospital and of Gaslini Children's Hospital were searched for all patients with a diagnosis of coronary artery anomaly who underwent coronary angiography between 1994 and 2006.

Coronary anomalies were diagnosed in 76 (1%) adult patients. Anomalous left circumflex artery was the commonest coronary anomaly (25%). Anomalous left coronary artery from pulmonary artery and myocardial bridges were the only anomalies responsible for angina-like symptoms. No patients except the one with anomalous left coronary artery from pulmonary artery needed surgical intervention. In the paediatric population, we found 28 (0.9%) patients with coronary anomalies. Anomalous left coronary artery from pulmonary artery was the most common anomaly (48%) and always required emergency surgical treatment; in addition there were two patients with stenosis of the left main coronary artery.

Coronary artery anomalies may be associated with very acute, even life-threatening symptoms in children, whereas they are usually clinically silent and detected by accident on coronary angiography in adults. Recognition of coronary artery anomalies enables early treatment or close follow-up in children, whereas it could be useful in case of cardiac surgery in adults.

To describe the haemodynamic response of children who receive arginine vasopressin for haemodynamic instability after cardiac surgery and to identify clinical variables associated with a favourable response.

We reviewed patients less than or equal to 6 years undergoing open heart surgery in our institution between January, 2009 and July, 2010 who received arginine vasopressin during the first 7 days post operation. Favourable responders were defined as those in whom blood pressure was increased or maintained and catecholamine score was decreased, or blood pressure was increased by greater than or equal to 10% of baseline and catecholamine score was unchanged at 6 hours following arginine vasopressin initiation.

Of the 34 patients identified, 17 (50%) patients responded favourably to arginine vasopressin. At 6 hours, the mean blood pressure was increased by 32.2% in responders as compared with 4.6% in non-responders, with a p-value less than 0.001. The mean catecholamine score decreased by 30.1% in responders and increased by 7.6% in non-responders, with a p-value less than 0.001. Anthropometric, demographic, and intra-operative variables were similar in both groups, as was maximum dose of arginine vasopressin. The median time after arrival to the intensive care unit at which arginine vasopressin was initiated, however, was later in those who responded, 20 hours as compared with those who did not, 6 hours, with a p-value equal to 0.032.

Arginine vasopressin therapy led to haemodynamic improvement in only half of the children in this study, and improvement was more likely to occur if arginine vasopressin was initiated after the post-operative night.

Providing care for children with cardiac disease remains a challenge in developing countries.

Since 2001, a team of paediatric cardiologists has been visiting Mongolia to perform children's cardiac catheterisation, as well as screening children for cardiac disease. Considering the limited medical resources, as well as cost, risk, and benefit, we focused our activities on diagnostic consultation by echocardiography, transcatheter closure of persistent arterial duct, balloon dilation of valvar pulmonary stenosis and aortic coarctation, and diagnostic catheterisation.

Up to 2011, we have completed echocardiography in 1200 patients; diagnostic catheterisations in 59 patients; and catheter interventions in 255 patients, including 224 for persistent arterial duct, 23 for valvar pulmonary stenosis, 6 for aortic coarctation, and a few others. We have visited 14 rural areas to screen for children's cardiac diseases. A total of 131 persistent ducts were closed with coils and a further 93 with a duct occluder. Migration of the coil or occluder to the pulmonary artery occurred once for each device. Pulmonary valvuloplasty was successful in 23 patients and a coarctation was effectively dilated in six patients.

The limited healthcare resources in developing countries such as Mongolia make catheter interventional procedures an attractive alternative to surgery in treating children with simple but critical congenital heart diseases. Introduction of the duct occluder extended the application of transcatheter occlusion of persistent arterial duct in Mongolia to larger vessels and avoided the expense of coil occlusion using multiple coils.

The prevalence of right ventricular dysfunction in idiopathic dilated cardiomyopathy is incompletely studied in children. Furthermore, right ventricular function may signal worse outcomes. We evaluated recently published right ventricular function echocardiographic indices in identifying dysfunction in children with idiopathic dilated cardiomyopathy and the impact of right ventricular dysfunction on long-term prognosis.

A retrospective database review of right ventricular function indices in 30 patients with idiopathic dilated cardiomyopathy was compared with 60 age- and sex-matched controls from January, 2001 until December, 2010. Right ventricular function was assessed by Doppler tissue peak systolic S′, early and late diastolic E′ and A′ waves and isovolumic acceleration at the tricuspid valve annulus; pulsed wave Doppler tricuspid valve inflow E and A waves; right ventricular myocardial performance index; tricuspid annular plane systolic excursion; right ventricular fractional area change.

Right ventricular systolic and diastolic function in idiopathic dilated cardiomyopathy was significantly impaired. All measured indices except for isovolumic acceleration and fractional area change were significantly reduced, with a p-value less than 0.05. There was no right ventricular index predictive of death or transplantation. Patients with poor outcome were significantly more likely to need inotropic support (p-value equal to 0.018), be placed on a ventricular assist device (p equal to 0.005), and have a worse left ventricular ejection fraction z-score (p-value equal to 0.002).

Right ventricular dysfunction is under-recognised in children presenting with idiopathic dilated cardiomyopathy. The need for clinical circulatory support and left ventricular ejection fraction z-score less than minus 8 were primary determinants of outcome, independent of the degree of derangement in right ventricular function.

In normotensive subjects, an exaggerated blood pressure response to exercise is associated with the development of resting hypertension. We sought to determine the prevalence of elevated blood pressures during exercise in post-operative coarctation patients with normal resting blood pressure, and investigate associations with exercise-induced hypertension in this population.

A total of 38 patients were enrolled after end-to-end anastomosis repair and resting normotension. All patients underwent anthropometric and blood pressure measurements, echocardiographic evaluation of function, arterial stiffness assessment by pulse wave velocity, and a graded exercise test. An abnormal response was defined as a maximum systolic blood pressure greater than the 95th percentile of published normal values. Correlation analyses and stepwise regression analyses were performed.

The mean age was 12.7 years, including 79% male patients. The mean resting systolic blood pressure was 111.3 millimetres of mercury and the mean exercise systolic blood pressure was 178.1 millimetres of mercury. The prevalence of a systolic blood pressure greater than the 95th percentile was 16.7%. In multivariate analysis, the exercise systolic blood pressure index was associated with body mass index, age, aortic valve annulus, shortening fraction, and pulse wave velocity (R2 equal to 0.79, p equal to 0.0009). Estimates of ventricular filling and indexed left ventricular mass were elevated.

There is a risk of elevated systolic blood pressure during exercise in normotensive patients after coarctation repair. Resting blood pressures are useful but not sufficient. Echocardiography demonstrated abnormalities suggestive of a chronic cardiac burden despite resting normotension. Regular imaging may be necessary to improve long-term outcomes. New paradigms for the continued follow-up of these patients are necessary.

Tetralogy of Fallot is a common congenital cardiac malformation. A rare subgroup includes unilateral absence of the pulmonary artery, either the left or the right main branch. The literature lacks an established treatment for these cases, and surgical options carry certain mortality and morbidity.

There were five patients who had single pulmonary artery and received surgical treatment among the 126 patients with the diagnosis of Tetralogy of Fallot, who were admitted to our institution between July, 2010 and November, 2011. All the patients were male. Ages ranged between 12 months and 8 years. The mean body mass index was 17.1 plus or minus 3.4 kilograms per square metre. Pulmonary artery Nakata index, Nakata index Z-score, and the McGoon index were used for the quantitative assessment of the pulmonary artery and to determine the surgical strategy.

Urgent modified Blalock–Taussig shunt operations were performed in two patients with very low oxygen saturation and haemodynamic instability. These patients are scheduled for corrective procedures on an elective basis. There was one patient who received an elective shunt procedure; however, the post-operative course was complicated with the overflow phenomenon and the patient underwent total correction with a check-valved patch used to close the ventricular septal defect. The patient required extracorporeal membrane oxygenator support in the post-operative period. There were two patients who underwent total correction of the pathology uneventfully. Mortality did not occur. Mean durations of hospital stay and follow-up were 14 plus or minus 13.4 days and 184.5 plus or minus 89.3 days, respectively.

Our modest series with Tetralogy of Fallot with unilateral absent pulmonary artery indicates the feasibility of surgical correction in patients with appropriate unilateral pulmonary artery size and palliative procedures when the pulmonary artery size is smaller than that predicted for the age. Multi-centre long-term data of larger series are warranted in order to establish a treatment protocol.

At the present time, there is a trend towards performing open heart surgery at a younger age. Myocardium of infants has been thought to be more vulnerable to cardiopulmonary bypass in comparison with adults. For this study, we evaluated the degree of myocardial injury by measurement of cardiac troponin levels in infants in comparison with older children for similar surgeries.

Serum was collected before bypass, after bypass, and daily after surgery and serum cardiac troponin I level (micrograms per litre). The demographic data, cardiac diagnoses, types of surgery performed, and peri-operative parameters were collected.

Of the 21 children enrolled consecutively, five were infants. Among the 21 patients, four patients had post-operative peak troponin values greater than 100 (three were infants) and all four patients survived and had normal left ventricular systolic function upon discharge echocardiogram. The five infants had peak troponin levels of 222.3, 202, 129, 26.7, and 82.3. The post-operative peak troponin levels were significantly higher in infants (mean 132.5 with a standard deviation of 81.6) than in the older children (mean 40.3 with a standard deviation of 33.4), although there was no significant difference in bypass time, bypass temperature, cross-clamp time, or the length of stay in the intensive care unit between the two age groups.

Higher troponin release is seen in infants in comparison with older children after bypass for similar surgeries. A troponin level greater than 100 after bypass does not necessarily predict death or a severe cardiovascular event in the very young.