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.

In our previous study, the prevalence of childhood masked hypertension was 11%. This study aims to assess the left ventricular mass index of persistent masked hypertension and determine the factors of elevated left ventricular mass index in Hong Kong Chinese adolescents from a community cohort.

Community prospective cohort study, follow-up of a case-control study in community.

Patients with masked hypertension at baseline were invited to recheck ambulatory blood pressure for the persistence of masked hypertension.

A total of 144 out of 165 patients with masked hypertension in the 2011/2012 ambulatory blood pressure survey consented to participate in the study. In all, 48 patients were found to have persistent masked hypertension by ambulatory blood pressure rechecking and were matched with normotensive controls by sex, age, and body height. The left ventricular mass (117.3±39.9 g versus 87.0±28.2 g versus 102.0±28.2 g) and left ventricular mass index (30.1±8.4 g/m2.7 versus 23.9±6.3 g/m2.7 versus 25.1±5.7 g/m2.7) were significantly higher in the persistent masked hypertension group (p<0.0001) compared with the patients without persistent masked hypertension and controls. In multivariate linear regression analysis, left ventricular mass index was found to be higher in male gender (β=4.874, p<0.0001) and the patients with persistent masked hypertension (β=2.796, p=0.003). In addition, left ventricular mass index was positively associated with body mass index z-score (β=3.045, p<0.0001) and low-density lipoprotein cholesterol concentration (β=1.634, p=0.015).

Persistent masked hypertension in adolescents is associated with elevated left ventricular mass index.

To examine the clinical utility of the Pediatric Symptom Checklist 17 for identifying psychosocial concerns and improving access to psychology services within a paediatric cardiology clinic.

Parents of 561 children (aged 4–17 years) presenting for follow-up of CHD, acquired heart disease, or arrhythmia completed the Pediatric Symptom Checklist 17 as part of routine care; three items assessing parental (1) concern for learning/development, (2) questions about adjustment to cardiac diagnosis, and (3) interest in discussing concerns with a behavioural healthcare specialist were added to the questionnaire. A psychologist contacted the parents by phone if they indicated interest in speaking with a behavioural healthcare specialist.

Percentages of children scoring above clinical cut-offs for externalising (10.5%), attention (8.7%), and total (9.3%) problems were similar to a “normative” primary-care sample, whereas fewer children in this study scored above the cut-off for internalising problems (7.8%; p<0.01). Sociodemographic, but not clinical, characteristics were associated with Pediatric Symptom Checklist 17 scores. 17% of the parents endorsed concerns about learning/development, and 20% endorsed questions about adjustment to diagnosis. History of cardiac surgery was associated with increased concern about learning/development (p<0.01). Only 37% of the parents expressing psychosocial concerns reported interest in speaking with a psychologist.

The Pediatric Symptom Checklist 17 may not be sensitive to specific difficulties experienced by this patient population. A questionnaire with greater focus on learning/development and adjustment to diagnosis may yield improved utility. Psychology integration in clinics serving high-risk cardiac patients may decrease barriers to behavioural healthcare services.

The relationship between interatrial communication, ductus arteriosus, and pulmonary flow in transposition of the great arteries and intact ventricular septum may help predict postnatal desaturation.

Echocardiographic data of 45 fetuses with transposition of the great arteries and intact ventricular septum and 50 age-matched controls were retrospectively reviewed. Interatrial communication, left and right ventricular output, flow in the ductus arteriosus, as well as effective pulmonary flow were measured. Patients were divided into two groups on the basis of postnatal saturations: group 1 had saturations ⩽50% and group 2 >50%.

Of 45 fetuses, 13 (26.7%) were classified into group 1. Compared with fetuses in group 2, they had a smaller interatrial communication (2.9 versus 4.0 mm, p=0.004) and more retrograde diastolic flow in the ductus arteriosus (92 versus 23%, p=0.002). Both groups showed a significant decrease in ductal flow compared with controls. Patients in group 2 had a higher effective pulmonary flow compared with controls. There was a mild correlation between left ventricular output and size of the interatrial communication (Spearman’s rank correlation 0.44).

A retrograde diastolic flow is present in most of the fetuses with postnatal desaturation. Fetuses with transposition of the great arteries have a lower flow through the ductus arteriosus compared with controls. Fetuses without restrictive foramen ovale have higher effective pulmonary flow. Peripheral pulmonary vasodilatation due to higher oxygen saturation in pulmonary arteries in the case of transposition of the great arteries could be one possible cause.

Although sports participation is allowed to most adult patients with corrected tetralogy of Fallot, a reduced exercise tolerance and reduced perceived physical functioning is often present in these patients. We aimed to investigate daily physical activity in adults with tetralogy of Fallot and to investigate the underlying determinants of physical activity in daily life.

We studied 73 patients with tetralogy of Fallot (53 male; mean age 27.3 ± 7.9 years) who underwent echocardiography and cardiopulmonary exercise testing, and who completed questionnaires about physical activity and perceived health status. All variables were compared with data from a general population. Relationships were studied by Pearson or Spearman correlation coefficients with correction for multiple testing.

Patients were significantly less active compared with the general population (p > 0.05), 55% of all patients were sedentary, 27% had an active or moderately active lifestyle, and 18% of the group had a vigorously active lifestyle. Peak oxygen uptake (71 ± 16%; p < 0.0001) was significantly reduced and related to reduced physical activity levels (r = 0.229; p = 0.017) and perceived physical functioning (r = 0.361; p = 0.002).

Adult patients with tetralogy of Fallot have a sedentary lifestyle and are less active than the general population. Inactivity significantly contributes to reduced exercise capacity, in addition to the impairment based on the cardiac condition. Moreover, reduced exercise capacity and the intensity of sports performed in daily life are related to perceived physical functioning. Individual patient counselling on physical activity might be a low-cost, high-benefit measure to be taken in this patient population.

Syncope occurs frequently in adolescents, and is often benign. Potential worrisome syncopal events include those occurring with exertion, concurrent chest pain, dyspnoea or palpitations, and those with focal or diffuse neurologic changes.

A 16-year-old female was referred to our institution for a history of exercise-induced spells. She was diagnosed since the age of 2 years with neurocardiogenic syncope and postural orthostatic tachycardia syndrome. She had been evaluated at multiple institutions, and was followed by pediatric neurology for a diagnosis of migraines. Owing to recurrent worsening symptoms and a syncopal episode requiring resuscitation, an echocardiogram was performed. The right coronary was normal, but the left coronary artery ostium could not be identified well. Doppler patterns were suspicious of an abnormal left coronary artery, and computed tomography angiography was performed. This revealed a single coronary artery arising from the right aortic sinus, with the left coronary artery arising from the proximal coronary trunk and coursing through the infundibular septum. This was surgically treated utilising a left internal mammary artery bypass graft to the left anterior descending coronary artery. A year later, she has not experienced any recurrence of syncope, and has returned to athletic activity.

This case highlights the index of suspicion that must be present when evaluating any patient with syncope, both clinically and via echocardiography. A computed tomography angiogram is indicated for better evaluation of coronary artery anatomy when an anomalous coronary cannot be ruled out by echocardiography.

Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. Thus far, endothelial dysfunction in patients with no coronary lesions is poorly understood. Our aim was to access the vascular function in adolescents and young adults long term after Kawasaki disease, but without coronary aneurysms or any other cardiac risk factors.

We carried out a single-centre prospective study in a Portuguese population. We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed >5 years ago, with no coronary lesions or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically assessed. Endo-PAT and carotid intima-media thickness assessment were performed to determine vascular function.

In total, 43 Kawasaki disease patients were assessed and compared with 43 controls. Kawasaki disease patients presented a decreased reactive hyperaemia index compared with controls (1.59±0.45 versus 1.98±0.41; p<0.001). Augmentation index was similar in both groups (−4.5±7 versus −5±9%; p 0.6). The mean carotid intima-media thickness was not significantly increased in the Kawasaki disease group. There were no statistically significant changes with regard to laboratory data.

Children with Kawasaki disease may have long-term sequelae, even when there is no discernible coronary artery involvement in the acute stage of the disease. Further research is needed to assess whether known strategies to improve endothelial function would bring potential benefits to Kawasaki disease patients.

Serum digoxin levels have limited utility for determining digoxin toxicity in adults. Paediatric data assessing the utility of monitoring serum digoxin concentration are scarce. We sought to determine whether serum digoxin concentrations are associated with signs and symptoms of digoxin toxicity in children.

We carried out a retrospective review of patients <19 years of age who received digoxin and had serum digoxin concentrations assessed between January, 2007 and June, 2013. Data collection included patient demographics, digoxin indication, serum digoxin concentrations, signs and symptoms of digoxin toxicity, electrocardiograms, and co-morbidities. Reviewers performing chart review and electrocardiogram analysis were blinded to digoxin levels. Descriptive statistical methods were used and comparisons were made between patients with and without toxic serum digoxin concentrations (>2 ng/ml).

There were 87 patients who met study criteria (male 46%, mean age 8.4 years). CHD was present in 67.8% and electrocardiograms were performed in 72.4% of the patients. The most common indication for digoxin toxicity was heart failure symptoms (61.5%). Toxic serum digoxin concentrations were present in 6.9% of patients (mean 2.6 ng/ml). Symptoms associated with digoxin toxicity occurred in 48.4%, with nausea/vomiting as the most common symptom (36.4%), followed by tachycardia (29.5%). Compared with those without toxic serum digoxin concentrations, significantly more patients with toxic serum digoxin concentrations were female (p=0.02). The presence of electrocardiogram abnormalities and/or signs and symptoms of digoxin toxicity was not significantly different between patients with and without serum digoxin concentrations (p>0.05).

Serum digoxin concentrations in children are not strongly associated with signs and symptoms of digoxin toxicity.

The aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.

The aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.

The data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.

During 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p<0.001), maternal age >35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, p<0.001) were associated with transposition of the great arteries. In a univariate analysis, Bedouin descent (p=0.004) and congenital heart defects in siblings (p<0.001) were associated with truncus arteriosus.

We observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.