We describe 3 siblings with muscular ventricular septal defects, two requiring surgical closure. One of their offspring had a rare congenital aneurysm of the muscular ventricular septum, also requiring surgery. Another had a small muscular ventricular septal defect which closed spontaneously. Their father had echocardiographic evidence suggestive of a closed muscular defect. Paternal cousins have had ventricular septal defect, hypertrophic cardiomyopathy, and tetralogy of Fallot. There was no evidence of 22q11 deletion.

Although ventricular septal defects are the most common congenital heart defect, such familial clustering is uncommon. The distribution of cases in this family suggests autosomal dominant inheritance. With echocardiography, and more precise diagnosis of defects which close, a larger genetic component may be revealed in other families.

Cervical aortic arch is a rare congenital anomaly. We present a case of left-sided cervical aortic arch, found in a patient with mitral regurgitation, mitral stenosis, and a regurgitant bicuspid aortic valve. There was atypical obstruction proximally within the arch. The obstructive segment was resected, and corrected by performing an end-to-side anostomosis. Mitral valvoplasty was performed in the same surgical procedure. To the best of our knowledge, a cervical arch has not previously been described with such atypical obstruction, and in association with multiple lesions involving the left heart.

Congenitally unguarded morphologically tricuspid valvar orifice is a rare abnormality, usually associated with pulmonary atresia. We describe such a case found in association with discordant atrioventricular and ventriculoarterial connections in which the aortic valve was atretic. Presentation was with respiratory distress due to severe cardiac failure after birth. Echocardiography demonstrated a dilated systemic ventricle with poor function, left atrial enlargement, and aortic atresia. The clinical findings were confirmed at autopsy.

Advanced surgical repair procedures have resulted in the increased survival rate to adulthood of patients with CHD. The resulting new chronic conditions population is greater than one million in the United States of America and >1.2 million in Europe. This review describes the risks and effects of infective endocarditis – a systemic infectious process with high morbidity and mortality – on this population and examines the evidence to determine whether greater patient education on recognition of symptoms and preventative measures is warranted. The literature search included the terms “infective endocarditis” and “adult congenital heart disease”. Search refinement, the addition of articles cited by included articles, as well as addition of supporting articles, resulted in utilisation of 24 articles. Infective endocarditis, defined by the modified Duke Criteria, occurs at a significantly higher rate in the CHD population due to congenitally or surgically altered cardiac anatomies and placement of prosthetic valves. This literature review returned no studies in the past five years assessing knowledge of the definition, recognition of symptoms, and preventative measures of infective endocarditis in the adult CHD population. Existing data are more than 15 years old and show significant knowledge deficits. Studies have consistently shown the need for improved CHD patient knowledge with regard to infective endocarditis, and there is no recent evidence that these knowledge deficits have decreased. It is important to address and decrease knowledge deficits in order to improve patient outcomes and decrease healthcare utilisation and costs.

Reactive hyperemia index is a measure of endothelial function used to assess subclinical atherosclerosis. When evaluated in healthy adolescents, significant changes in endothelial function were correlated with advancing age, pubertal status, and blood pressure. Blood pressure was the principal contributor to reactive hyperemia index variability independent of age, lipid profile, body mass index, and/or pubertal status. Interpretation of this peripheral vascular marker should include age and maturational changes in paediatric patients.

Anomalous origin of the right coronary artery from the posterior, non-coronary sinus is extremely rare and has never been reported in a paediatric-age competitive athlete. We report this very rare case of the right coronary artery arising from the posterior sinus. In the anomalous right coronary from the posterior sinus, the proximal right coronary artery appears widely patent and has no interarterial course.

Sudden death and ventricular tachycardia are known to occur late after correction of tetralogy of Fallot. Abnormal dispersion of the QT interval, ventricular late potentials, and prolongation of the QRS complex, alone or in combination, are useful markers of the risk for such complications. Our present prospective study investigates the time course of appearance of two markers, dispersion of QT and JT, and ventricular late potentials, before and after corrective surgery. Dispersion of QT and JT, and signal averaged electrocardiographic parameters, were determined sequentially in 20 patients before, a mean of 9 ± 3 days after, and again 35 ± 11 days post-operatively. Dispersion of QT was already abnormal before surgery in two-fifths of the patients, but increased markedly in the later post-operative period. Ventricular late potentials were absent before surgery and in the immediate post-operative period, but were found in one-fifth of patients 1 month later. We conclude that abnormal dispersion of QT is, to some extent, a fact of the natural history of tetralogy of Fallot, but is significantly amplified by surgery. Ventricular late potentials, on the other hand, are absent before surgery, but appear with some delay after the operation, probably as a result of scarring rather than the surgical incision itself. Long-term follow-up is needed to assess the significance of these findings.

Pulmonary artery sling is a congenital cardiovascular disease and is usually accompanied by tracheobronchial stenosis. Generally, infants diagnosed with pulmonary artery sling should have surgery. However, the treatment of tracheobronchial stenosis is still controversial. Our team developed a customised, degradable, three-dimensional printed splint and successfully applied it in the treatment of pulmonary artery sling associated with severe bilateral bronchus stenosis. We suggested that three-dimensional printing may be a novel and effective way to treat tracheobronchial stenosis and other diseases in children.

Heart failure is a common cause of death in patients with muscular dystrophy. Mechanical support may be an important component of long-term heart failure therapy in these patients. We present a report of a child with muscular dystrophy successfully implanted with a Heartware HVAD.

Summary Mucocutaneous lymph node syndrome, now called Kawasaki disease, affects children of all ages and races. The cause of this systemic vasculitis is unknown, thus the diagnosis is based solely on clinical criteria. Coronary arteritis and the formation of coronary arterial aneurysms are the most serious early cardiac complications, while long term sequels, such as coronary stenosis and myocardial infarction, may occur. Current medical therapy is aimed solely at preventing or decreasing the occurrence of these cardiovascular complications in patients with this disease. Past treatment included antibiotics, steroids, and nonsteroidal anti-inflammatory agents. Aspirin remains the most widely used drug, although the use of intravenous gammaglobulin has also become common. When used in combination, these two agents may reduce the incidence of coronary arterial aneurysms. The optimal dosage and duration of treatment has not yet been determined.

Between January, 2002 and December, 2011, 27 patients (19 boys) underwent pericardiectomy. The mean age was 9.3 ± 4.96 years (range 0.4 to 15 years) and the mean duration of symptoms was 16.9 ± 22.15 months. In all, 25 patients had dyspnoea; eight were in New York Heart Association (NYHA) class IV; six had bacterial pericarditis; and 18 were on anti-tuberculosis treatment, although only nine had records suggesting tuberculosis. There were nine patients who underwent pre-operative pigtail catheter drainage of pericardial fluid. Surgical procedures were complete pericardiectomy (n = 20), partial pericardiectomy (n = 6), and pleuropericardial window (n = 1).The mean pre-operative right atrial pressure was 20.4 ± 4.93 mmHg. There were six hospital deaths due to low cardiac output (n = 5) and arrhythmia (n = 1). The mean intensive care unit stay was 2.7 ± 1.2 days and mean post-operative stay was 9.9 days. The mean right atrial pressure dropped to 8.7 ± 1.15 mmHg. Adverse outcomes defined as death/prolonged intensive care unit stay, prolonged post-operative stay were not associated with sex, diagnosis of tuberculosis or pyopericardium, or the duration of symptoms or pre-operative right atrial pressure. Younger patients had prolonged intensive care unit stay (p = 0.03) but not increased mortality. Advanced NYHA class predicted death (p = 0.02). The mean follow-up was 23.1 ± 23.8 months. All except one survivor are in NYHA class I and off all cardiac medications. Despite adequate surgery, pericardiectomy in children is associated with a high mortality, which is related to delayed surgery and poor pre-operative general condition. No specific pre-operative variable other than worse pre-operative NYHA class is a predictor of survival. Therefore, early pericardiectomy should be undertaken in such patients.

Aneurysmal dilatation is a rare malformation of the arterial duct. Successful repair of this anomaly was achieved in a five-day-old neonate, using deep hypothermia and circulatory arrest. Of the cases of aneurysm of the arterial duct reported in the English literature, only seven have been treated surgically with success.

The vast majority of patients with complete transposition present during either the neonatal period or early infancy. Almost always the diagnosis and the categorization of associated lesions can be established by cross-sectional echocardiography. Doppler techniques usually provide enough information about flows to allow palliative or radical surgery to be undertaken without formal cardiac catheterization, because balloon atrial septostomy is carried out with echocardiographic imaging, often on the intensive care unit. Angiography is occasionally performed to visualize the pulmonary arteries or the aorta, and, if there is suspicion of a significant elevation of the pulmonary vascular resistance, it must be measured at cardiac catheterization. Neither cross-sectional echocardiography nor aortography is entirely reliable in identifying those patterns of the coronary arteries which are a contraindication to the arterial switch operation. There is, as yet, no evidence that either magnetic resonance imaging or transesophageal echocardiography are superior to more conventional methods of preoperative diagnosis in complete transposition and it seems unlikely that they will be required.

We report the case of a 14-year-old boy with severe protein-losing enteropathy after Fontan surgery that led to lymphangiectasia, which caused gastrointestinal haemorrhage and required invasive treatment to stop the bleeding. Through this case and a review of the literature on protein-losing enteropathy after Fontan surgery, we highlight a rare and serious presentation of the disease and the difficulties of diagnosis and management.

Editor's Note: This discussion is extracted from a lecture and has been minimally edited to maintain the style which we think maintains the spirit as well as the educational content. It is primarily included to offer trainees an introduction to the history and physiology encountered in this evolving specialty. We invite your comments.

Ventricular septal defect is the most common type of CHD, and transcatheter ventricular septal defect closure has been shown to be an alternative to surgical closure with acceptable mortality and morbidity as well as encouraging results. Short-term and mid-term follow-ups have indicated the safety and efficacy of transcatheter closure, but long-term follow-up results were rare. In this report, we first found that aortic regurgitation occurred in patients 9–12 years following transcatheter closure and regurgitation were gradually increased. The findings indicate that the long-term outcome of transcatheter closure of ventricular septal defect may not be as satisfied as expected.

We describe two children with isolated origin of the left subclavian artery from the left pulmonary artery detected by echocardiography during the assessment of their congenital cardiac malformations. Both patients demonstrated pre-operative evidence of subclavian steal. This entity results from persistence of the dorsal segment of the sixth left arch, with regression of the left fourth arch and interruption of the left dorsal arch distal to the origin of the seventh left intersegmental artery. The significance of this finding relates to the potential for pulmonary overcirculation, which could have significant post-operative ramifications if not detected prior to surgical repair of an associated cardiac malformation. This entity differs from cases with a right aortic arch and aberrant left subclavian artery which has the potential to form a vascular ring, unlike cases with isolated origin of the left subclavian artery from the pulmonary artery that do not cause compression of the airway.