Hyperuricaemia is associated with traditional cardiovascular risk factors such as type 2 diabetes or dyslipidaemia and a higher mortality.

Out of 528 congenital heart disease patients, 329 patients, including 190 male and 139 female patients, in whom uric acid determination was performed, were studied and followed up to determine survival.

Male congenital heart disease patients with high serum uric acid concentrations (>7 mg/dl) showed significantly (p < 0.05) higher body mass index, serum creatinine, total cholesterol, low-density lipoprotein-cholesterol, triglycerides, and C-reactive protein concentrations than those male congenital heart disease patients with lower serum uric acid levels (≤7 mg/dl). Meanwhile, female congenital heart disease patients with higher serum uric acid concentrations (>5.7 mg/dl) were significantly (p < 0.05) younger, more hypoxaemic, more obese, and with higher C-reactive protein and N-terminal-pro-B-type natriuretic peptide levels than those female congenital heart disease patients with lower serum uric acid concentrations (≤5.7 mg/dl). During a median follow-up of 90 months, 16 out of 528 congenital heart disease patients died – 14 patients of cardiac origin and two patients of non-cardiac origin – of whom 10 were hypoxaemic. Kaplan–Meier analysis showed no significant differences in mortality between male and female congenital heart disease patients with high and low serum uric acid level concentrations.

Hypoxaemia, body mass index, and C-reactive protein concentrations are higher in hyperuricaemic congenital heart disease patients, although no significant differences were seen in mortality between congenital heart disease patients with high and low serum uric acid concentrations.

Diagnostic ultrasound is widespread in obstetric practice, yet many babies with major congenital heart disease remain undiagnosed. Factors affecting prenatal diagnosis of major congenital heart disease are not well understood. This study aims to document prenatal detection rates for major congenital heart disease in the Greater Cincinnati area, and identify factors associated with lack of prenatal diagnosis.

All living infants diagnosed with major congenital heart disease by 4 months of age at our centre were prospectively identified. Prenatal care data were obtained by parent interview. Neonatal records were reviewed for postnatal data. Obstetricians were contacted for diagnostic ultrasound data.

A total of 100 infants met the inclusion criteria. In all, 95 infants were analysed, of whom 94 were offered diagnostic ultrasound. In all, 41 had a prenatal diagnosis of major congenital heart disease. The rate of prenatal detection varied by cardiac lesion, with aortic arch abnormalities, semilunar valve abnormalities, and venous anomalies going undetected in this sample. Among subjects without prenatal detection, the highest proportion consisted of those having Level 1 diagnostic ultrasound only (66%). Prenatal detection was not significantly influenced by maternal race, education level, income, or insurance type.

Despite nearly universal diagnostic ultrasound, detection rates of major congenital heart disease remain low in southwest Ohio. An educational outreach programme including outflow tract sweeps for community-level obstetrical personnel may improve detection rates.

Quality of life has become an important outcome measure in addition to mortality and morbidity in patients with congenital heart disease. Atrial septal defect is a common congenital heart disease, and transcatheter atrial septal defect closure has become an accepted treatment modality. The aim of this study is to assess the quality of life of patients with atrial septal defect who underwent percutaneous closure.

We examined the quality of life of 69 patients with atrial septal defect and 69 healthy controls matched according to age, sex, educational level, and economic, marital, and employment status. Quality of life was investigated using the Turkish version of Short Form-36.

The mean age of the patients was 39.7 ± 14.2 and 26% were male. The quality of life assessment was performed at a mean follow-up time of 18.0 ± 13.8 months after the intervention. The mean scores of the domains of the Short Form-36, namely, physical functioning, role functioning, social functioning, mental health, vitality, pain, and general health, were similar in patients with atrial septal defect who underwent percutaneous closure and the control group.

Adult patients who underwent percutaneous atrial septal defect closure perceive their quality of life to be as good as their healthy counterparts.

The present study aims to define the lowest effective prostaglandin E1 dose in patients with inadequacy of pulmonary blood flow and/or intracardiac blood mixing and those with inadequate systemic blood flow.

Patients with inadequacy of both pulmonary blood flow and/or blood mixing (Group 1) and those with inadequate systemic blood flow (Group 2) were retrospectively evaluated in two separate groups with regard to the prostaglandin E1 starting dose given in the referring facility, the lowest and the highest dose administered in our centre, treatment duration, adverse effects, and administered treatment.

No difference between the groups could be detected with respect to sex or birth weight (p=0.95 and 0.42, respectively). Group 1 and Group 2 were statistically similar in aspect of prostaglandin treatment duration (9.73±0.81 days versus 11.6±1.05 days, p=0.064). When compared with Group 2, the initial, maintenance and lowest efficient doses of prostaglandin E1 treatment were significantly lower and the titrated dose of prostaglandin E1 was significantly higher in Group 1 (p=0.001 for each).

Our findings indicate that the infusion of prostaglandin at a very low dose (0.003–0.005 mcg/kg/minute) is sufficient to maintain the patency of the ductus arteriosus. A higher dose of prostaglandin E1 may be necessary in patients with inadequate systemic blood flow.

Cardiac abnormalities in sickle cell anaemia are frequent and early, despite being more evident in adulthood. The study on cardiac abnormalities is essential in the current context, as, owing to improved health, children are increasingly able to reach adulthood and suffering the consequences of chronic cardiac injury.

The aim of this study was to determine the prevalence of echocardiographic changes in patients under 20, suffering from sickle cell disease in Rio Branco, Brazilian Western Amazon.

The descriptive epidemiological study compare two sets of children and adolescents, one including sickle cell anaemia patients (n=45), and other one (n=109) without sickle cell anaemia or heart disease. The echocardiographic measurements were indexed according to body surface using z-scores, and the prevalence of echocardiographic changes in both groups, with their respective 95% confidence intervals, ascertained and compared.

Compared with the non-sickle cell anaemia series, the sickle cell anaemia group showed z-scores 13.1-fold higher for the diastolic diameter of the left ventricle, 5.2 times higher for the thickness of the posterior wall, 4.9 higher for the left atrium, 2.5 times higher for the right ventricle and 2.0 times higher for the septum thickness. Also the rate of left ventricular mass, systolic pressure of the right ventricle and the relative wall thickness were significantly higher in sickle cell anaemia set.

Cardiac abnormalities were observed in 93.5% of patients. Early detection of cardiac abnormalities and quantifying them using the indexation of echocardiographic measurements according to body surface will allow proper identification and attendance of these children.

Ellis–van Creveld syndrome is a rare condition associated with a very high incidence of congenital malformations of the heart. Prior reports have suggested increased morbidity and mortality following surgery for congenital malformations of the heart in patients with Ellis–van Creveld syndrome.

The Pediatric Health Information System database, an administrative database containing data from 43 free-standing paediatric hospitals in North America, was queried to search for patients with the diagnostic code for Ellis–van Creveld syndrome between 2004 and 2011. Those patients who underwent cardiac procedures were compared with those who did not with respect to measures of healthcare utilisation.

A total of 138 admissions occurred in 93 patients with Ellis–van Creveld syndrome during the study period. Of these, 74% had an underlying diagnosis of congenital malformations of the heart. Half of the patients in the sample underwent a cardiac surgical or interventional catheterisation procedure. Patients who underwent a cardiac procedure had a longer hospital length of stay, higher incidence of intensive care unit admission, and higher total and per day hospital charges than patients who did not undergo cardiac surgery during admission.

In a large group of inpatients with Ellis–van Creveld syndrome, the prevalence of congenital malformations of the heart was similar to that reported in prior studies. Cardiac surgical and interventional procedures appear to drive a substantial portion of healthcare utilisation in these patients.

To detect the relationship of N-terminal pro-brain natriuretic peptide levels with clinical and laboratory findings by measuring them at diagnosis, during, and after treatment in children with acute rheumatic carditis.

A total of 40 children including 20 acute rheumatic carditis patients aged between 5 and 16 years 20 healthy children as controls were included in the study. Blood was drawn from patients at diagnosis and in the first week, first month and third month after treatment in order to detect pro-brain natriuretic peptide, C-reactive protein levels and erythrocyte sedimentation rates. All patients underwent echocardiography.

The N-terminal pro-brain natriuretic peptide levels of children with acute rheumatic carditis were significantly higher than those of the control group at diagnosis and during treatment (p<0.05). Echocardiographic evaluation of acute rheumatic carditis patients revealed that the left atrium diameter continued to decrease during the study and that the mean left atrium diameters measured at diagnosis and in the first week were statistically higher than the mean left atrium diameters measured in the third month. There was significant correlation between left atrium diameters at diagnosis and in the first month and N-terminal pro-brain natriuretic peptide levels during the same periods in the patient group.

Previous studies have used N-terminal pro-brain natriuretic peptide levels as a marker of enlargement of the left atrium, whereas in this study we want to emphasise its role as a marker of inflammation. This increase was significantly correlated with enlargement in the left atrium. N-terminal pro-brain natriuretic peptide levels were found to be a valuable determinant in indicating cardiac inflammation and haemodynamics.

Efficient diagnosis of an underlying genetic aetiology in a patient with congenital heart disease is essential to optimising clinical care. Copy number variants are one aetiology of congenital heart disease; the majority are identifiable by targeted fluorescence in situ hybridisation or array comparative genomic hybridisation, not by classical cytogenetic analysis. This study assessed the utility of array comparative genomic hybridisation as a first-tier diagnostic test for neonates with congenital heart disease.

A prospective chart review of neonates with congenital heart disease in the Cardiac Intensive Care Unit at Children’s Hospital of Pittsburgh of UPMC was performed. Patients were tested by array comparative genomic hybridisation and classical cytogenetic analysis simultaneously. Data collected included all chromosome abnormalities detected, physical examination findings, and imaging results. McNemar’s test was used to compare detection of array comparative genomic hybridisation and classical cytogenetic analysis.

Of 45 patients, three (6.7%) had an abnormality detected by classical cytogenetic analysis and an additional 10 (22.2%) had a copy number variant detected by array comparative genomic hybridisation, highlighting an increased detection rate (p=0.008). Several of these copy number variants had unclear clinical significance, requiring additional investigation. The prevalence of dysmorphology and/or comorbidity in this population was 72%. Identification of dysmorphic features was greater when assessed by a geneticist than by providers of different subspecialties.

Array comparative genomic hybridisation has significant clinical utility as a first-tier test in this population, but it carries the potential for incidental findings and results of uncertain clinical significance. Collaboration between cardiologists and medical geneticists is essential to providing optimal clinical care.

Heart murmurs are common in children. The majority are detected incidentally, and congenital heart disease is rare. There are no published United Kingdom guidelines for management of children with murmurs in primary care. Common practice is to refer all children for specialist assessment.

To review outcomes of children with heart murmurs who were referred by general practitioners to a clinic conducted by a paediatrician with expertise in cardiology.

A retrospective review of children referred by general practitioners to a paediatrician with expertise in cardiology.

Hospital records of all children under 17 years of age who attended the clinic during 2011 were reviewed. We excluded children previously seen by any cardiology service.

There were 313 new primary care referrals, with complete records available for 310 children. Of them, 186 (60%) were referred with a murmur: 154 for an asymptomatic murmur alone, and 32 for a murmur plus additional symptoms or family history of congenital heart disease. All underwent echocardiography. Of the patients, 38 (20%) had congenital heart disease. Younger children were more likely to have congenital heart disease. There was no difference between rates of congenital heart disease in children with or without symptoms or a family history.

The finding that a large proportion of children referred by general practitioners with asymptomatic heart murmurs have congenital heart disease supports current referral practice on clinical grounds.