Dilated cardiomyopathy is the most common form of cardiomyopathy in the paediatric population and an important cause of heart transplantation in children. The clinical profile and course of dilated cardiomyopathy in children have been poorly characterised. A retrospective review of 61 patients (37 female; 24 male) diagnosed with dilated cardiomyopathy from January, 2005 to June, 2012 at a single institution was performed. The median age at diagnosis was 15 months. Heart failure was present in 83.6% of patients and 44.3% required intensive care. The most prevalent causes were idiopathic (47.5%), viral myocarditis (18.0%) and inherited metabolic diseases (11.5%). In viral myocarditis, Parvovirus B19 was the most common identified agent, in concurrence with the increasing incidence documented recently. Inherited metabolic diseases were responsible for 11.5% of dilated cardiomyopathy cases compared with the 4–6% described in the literature, which reinforces the importance of considering this aetiology in differential diagnosis of paediatric dilated cardiomyopathy. The overall mortality rate was 16.1% and five patients underwent heart transplantation. In our series, age at diagnosis and aetiology were the most important prognosis factors. We report no mortality in the five patients who underwent heart transplantation, after 2 years of follow-up.

Serial foetal echocardiography showed the development of severe left ventricular systolic dysfunction and thrombosis in a previously healthy foetus. Normal cardiac findings in a mid-trimester foetus do not exclude subsequent dilated cardiomyopathy.

No reports on pulmonary atresia with ventricular septal defect with the combination of double aortic arch and interruption between left and right carotid arteries have been published so far.

Background: Few data are available on the neuropsychological, behavioural, or structural brain imaging outcomes in adolescents who underwent corrective surgery in infancy for tetralogy of Fallot. Methods: In this single-centre cross-sectional study, we enrolled 91 adolescents (13–16 years old) with tetralogy of Fallot and 87 referent subjects. Assessments included tests of academic achievement, memory, executive functions, visual-spatial skills, attention, and social cognition, as well as brain magnetic resonance imaging. Results: Genetic abnormalities or syndromes were present in 25% of tetralogy of Fallot patients, who had markedly greater neuropsychological morbidities than did patients without a syndrome. However, even patients without a syndrome performed significantly worse than the referent group or population norms in all of the neuropsychological domains assessed. In multivariable regression in those without a genetic/phenotypic syndrome, the strongest predictors of adverse late neurodevelopmental outcomes included a greater number of complications at the first operation, more total surgical complications across all operations, and occurrence of post-operative seizures. The presence of at least one abnormality on structural magnetic resonance imaging was more frequent in tetralogy of Fallot patients than the referent group (42% versus 8%). Conclusions: Adolescents with tetralogy of Fallot are at increased neurodevelopmental risk and would benefit from ongoing surveillance and educational supports even after childhood.

We present images and brief clinical summaries of four infants with prominent left ventricular to coronary arterial connections in the setting of hypoplastic left heart, mitral stenosis, and aortic atresia.

A 20-day-old girl was referred to our clinic for systolic murmur, cyanosis, and dyspnoea with feeding. Echocardiography revealed an atretic aortic valve. CT angiography scan revealed that the left common carotid artery originated from the distal main pulmonary artery. The plan was patent ductus artriosus stenting and bilateral pulmonary artery banding and then follow-up for any possible future intervention.

A 35-day-old boy weighing 4.5 kg was referred to our department from a general paediatric hospital due to low oxygen saturation. His transcutaneous oxygen saturation was 75%. Transthoracic echocardiography showed discordant ventriculo-arterial connections, a non-restrictive atrial septal defect, and patent ductus arteriosus, in addition to a 23 mm×10-mm left atrial appendage aneurysm. As far as we know, this association has not been reported previously in the literature.

Extensive supplemental training exists for many subspecialty disciplines within fellowship training for paediatric cardiology in the United States of America. These disciplines, or domains, such as echocardiography, cardiac intensive care, interventional cardiology, and electrophysiology, allow for initial exposure and training during the basic 3 years of fellowship, plus mandate a 4th year of advanced training; however, ambulatory cardiology has no in-depth or additional training beyond the basic clinical exposure during fellowship training. Ambulatory cardiology is not included in the recommended scheduling of the various domains of cardiology training. This document reviews the reasons to consider augmenting the depth and breadth of training in ambulatory paediatric cardiology.

Common arterial trunk with arch obstruction is a rare conotruncal abnormality. We report, with confirmatory images, a neonate with this anomaly and additional supracardiac partial anomalous pulmonary venous connection, as well as phenylketonuria.

Coronary arteriovenous fistula is an uncommon clinical entity. The right coronary artery is the most common site of origin, and the fistula commonly drains into the right-sided cardiac chambers. Very rarely it can arise from the left main coronary artery, and fistulas draining into the superior vena cavity are extremely rare. We report a 12-year-old asymptomatic boy with a large coronary arteriovenous fistula between the left main coronary artery and superior vena cava, with aneurysmal dilatation of the left main coronary artery. As the fistula was very large and to prevent its complications, it was planned to close the fistula percutaneously.

An 8-year-old girl with supraventricular tachycardia and an implanted vagus nerve stimulator underwent radiofrequency ablation of her supraventricular tachycardia substrate. No known literature exists addressing the potential interaction of these two technologies, although there are reported cases of interaction between radiofrequency and other implanted stimulating devices such as pacemakers. The procedure was performed successfully without observed interaction, and the patient’s family reported no significant change in frequency of seizure control.

We describe the use of low-dose dual-source cardiac for the evaluation of a neonate with suspected total anomalous pulmonary venous connection. This novel technique obviates the need for sedation or breathholding. Radiation dose-reduction strategies result in sub-mSv-estimated effective doses, substantially lower than annual background radiation dose. Low-dose, high-pitch cardiac CT should be considered as an alternative to MRI or diagnostic cardiac catheterisation in neonates with complex CHD, requiring definitive anatomic evaluation.

We present the case of a newborn with tetralogy of Fallot and pulmonary atresia, with a right pulmonary artery from the ascending aorta, and a left pulmonary artery arising from the right coronary artery via an indirect aortopulmonary collateral. The embryogenesis of this unusual combination of pulmonary blood supply has significant implications when considering normal migration of the aortopulmonary septum.

Left ventricular twist results from the movement of two orthogonally oriented muscular bands of the helical myocardial structure, with a consequent clockwise rotation of the left ventricular base and counterclockwise rotation of the left ventricular apex. To the best of the authors’ knowledge, this is the first time that left ventricular “rigid body rotation”, the near absence of left ventricular twist in hypoplastic right-heart syndrome, has been demonstrated.

A preterm 29-week gestation baby was delivered because of gross foetal hydrops secondary to congenital complete heart block. Despite a poor prognosis, she survived stabilisation and received emergency epicardial pacing followed by permanent pacemaker insertion on day 13, weighing 1.2 kg.

Left anterior accessory pathways are considered to be rare findings. Catheter ablation of accessory pathways in this location remains a challenging target, and few reports about successful ablation of these accessory pathways are available. We describe our experience regarding a case of a manifest left anterior accessory pathway ablation using radiofrequency energy at the junction of the left coronary cusp with the non-coronary cusp.

We report on a boy with severe pulmonary arterial hypertension associated with mucolipidosis, a rare lysosomal storage disorder. During diagnostic catheterisation, we found increased endothelin-1 levels, but normal big endothelin-1-levels (the precursor form of endothelin-1), which suggests impaired degradation of endothelin-1 rather than increased synthesis. As endothelin-1 degradation takes place in the lysosome, it appears likely that lysosomal dysfunction caused by the underlying disease contributes to the development of pulmonary arterial hypertension in this patient.