The development of an aorta–right atrial fistula is a very rare complication of aortic isthmic atresia. We described a case of aorta–right atrial communication associated with isthmic atresia.

Anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) is a very rare congenital heart anomaly. Most of the cases are asymptomatic during infancy and childhood. We report ARCAPA associated with aberrant right subclavian artery in a 2-month male infant presenting with heart failure. We used computed tomography angiography for confirming the diagnosis and also for post-operative follow-up.

We present a case of double aortic arch with a predominant right and a double arterial duct detected by echocardiogram in a 28-week gestation foetus. The first evaluation revealed that both arches were perfused; the 1-month postnatal echocardiogram showed the closure of both arterial ducts and the partial obliteration of the left aortic arch between the left subclavian artery and the dorsal aorta. In our case, the postnatal obliteration of the left arch in a double aortic arch was probably due to the closure of the left-sided arterial duct.

We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

In a prospective cohort of 181 individuals followed up since childhood – when aged 9, 12 and 15 years – patients with a family history of premature coronary heart disease (n=18) had higher left ventricular mass index in adulthood – at mean age of 31 years – compared with those without (mean±standard error 39.1±1.9 versus 34.6±0.7 g/m2.7, p=0.04). The correlation between adult left ventricular mass index and child triglycerides (r=0.66, p=0.04 versus r=−0.03, p=0.75; pdiff=0.02) and diastolic blood pressure (r=0.65, p=0.02 versus r=0.16, p=0.07; pdiff=0.05) was stronger among those with a family history of coronary heart disease than in those without. Although preliminary, these data suggest that the higher left ventricular mass index among adults with a family history might be explained by their increased susceptibility to child cardio-metabolic risk factors.

Aneurysms of one of the aortic sinuses of Valsalva are rare congenital or acquired lesions. Here we present the case of an adolescent with Down syndrome with ruptured aneurysm of the right coronary sinus into the right atrium. All sinuses of Valsalva were normal during cardiological screening owing to Down syndrome at the age of 2 weeks. Paediatricians should have a low threshold for referring patients with Down syndrome for cardiac re-evaluation because of the new onset of cardiac symptoms or cardiac physical findings, even in the situation in which there are normal echocardiographic findings in the past.

Williams syndrome is caused by a gene deletion of chromosome 7. A majority of the cases are sporadic with typical facial appearance, cardiac anomalies, and mental retardation. We report a rare case of Williams syndrome associated with supravalvular aortic stenosis, subvalvular aortic membrane, mitral regurgitation, aortic coarctation, and patent ductus arteriosus. The patient had undergone a single-stage surgical repair with satisfactory results at 5 months of follow-up.

We present the case of percutaneous removal of a fractured stent fragment during cardiac catheterisation using a novel stretching method. The procedure was performed in a 9-month-old infant. The small distal fragment of a fractured stent in the aorta was stretched using a two-sided approach – that is, from the carotid and femoral artery. This manoeuvre allowed for the removal of the stretched, linear-shaped stent part through a 6 Fr sheath without any local and general complications.

We report the case of a large congenital rhabdomyoma of the interventricular septum diagnosed prenatally. The foetus was strictly monitored with ultrasound throughout the gestation period showing that the mass had increased in size until delivery. Despite the size of the mass, which appeared to occupy the right ventricle, the baby presented no symptoms both in utero and after birth. Serial echocardiography was used to document the regression of the mass in childhood.

To compare differences in the management of the neonatal patent ductus arteriosus between neonatologists and paediatric cardiologists, physicians throughout the South-West were contacted. In treatment-refractory cases, neonatologists considered ligation less frequently than paediatric cardiologists (0% versus 40%; p<0.05) and held haemodynamic effects more important for ligation decisions [median: 5 (range 2–5) versus median: 4 (range 2–5); p<0.05]. Furthermore, 81% felt the current guidelines were insufficient.

Tolvaptan, an oral vasopressin receptor antagonist, was administered to a 6-year-old boy with advanced congestive cardiac failure due to restrictive cardiomyopathy. Slow up-titration of the tolvaptan improved the loop diuretic-resistant congestive cardiac failure without hypernatraemia, deterioration of vital signs, and significant complications. Tolvaptan could be useful and safe for children with severe congestive cardiac failure. It is necessary to accumulate clinical data on tolvaptan administration in children in order to determine the optimal method of administration.

Plastic bronchitis is a rare and difficult to treat disease process in patients with congenital heart disease. Cardiac transplantation has been used increasingly to reverse this process, especially in single ventricle physiology. This case report demonstrates a foreseeable complication after cardiac transplantation in such a patient.

We describe an atypical case of an atrioventricular septal defect with a common atrioventricular junction in which the right-sided component of the common atrioventricular valve was imperforate, producing tricuspid atresia with a severely hypoplastic right ventricle and an ostium primum defect. We discuss the implications of the anatomic findings with regard to concepts of cardiac development, drawing a comparison with similar cases previously reported.

Vascular stricture is a known complication of radiofrequency ablation. We used this potential of radiofrequency for voluntary restriction and closure of a pulmonary artery branch in a sheep.

Catecholaminergic polymorphic ventricular tachycardia is a rare life-threatening arrhythmogenic disorder. An association with paroxysmal atrial fibrillation and other atrial arrhythmias has been described, but in all published cases the initial manifestation of the disease was ventricular arrhythmia. This is the first report about a patient who presented with complex atrial tachycardia and sinus node dysfunction about 1 year before the typical ventricular arrhythmias were observed, leading to the diagnosis of catecholaminergic polymorphic ventricular tachycardia. In this girl, a mutation of the ryanodine receptor type 2 gene, which has not been described so far, was discovered.

Behçet's disease is a chronic autoimmune disease with vascular complications that are most frequently manifested as thromboembolism in veins and pseudoaneurysm in arteries. We report the case of a 13-year-old boy admitted for clinical and biological signs of rheumatic fever associated with chest pain. The clinical examination found heart sounds with a discrete systolic murmur of mitral regurgitation. The electrocardiogram showed a microvoltage with diffuse repolarisation disorder. Biologically, he had inflammatory syndrome. Transthoracic echocardiography showed circumferential pericardial effusion with anterosepto-apical hypokinesia of the left ventricle with systolic dysfunction, and a minimal mitral regurgitation. The patient was treated by corticotherapy and antibiotherapy. The outcome was marked by orogenital aphthous ulceration and decreased visual acuity related to intermediate uveitis. The retinal angiography showed a vasculitis. The late appearance of this symptom led to the right diagnosis of Behçet's syndrome. Transthoracic echocardiography showed a hypokinetic dilated cardiomyopathy left ventricular with septo apical and anterior akinesia and severe systolic dysfunction, with a defect of the inferior septal with a collar communicating the left ventricle with a giant pseudo aneurysm. Magnetic resonance imaging showed a giant pseudoaneurysm communicating with the left ventricle. The coronary computed tomography was normal. The patient had undergone surgical treatment for the pseudoaneurysm with good outcomes.

A 51-year-old lady presented with increasing heart failure symptoms and palpitations. She had recently been diagnosed with a congenital ventricular septal defect, bicuspid aortic valve, and Eisenmenger’s syndrome. There was clinical evidence of right heart failure and differential clubbing and cyanosis affecting the feet but not hands. A cardiac magnetic resonance imaging demonstrated interruption of the aortic arch beyond the left subclavian artery, with the descending aorta perfused entirely through a large patent ductus arteriosus.

Calcifying fibrous tumour is a rare benign fibrous lesion. It is paucicellular, with fibroblasts, dense collagenisation, psammomatous and dystrophic calcification, and patchy lymphoplasmacytic infiltrates. Calcifying fibrous tumour was first described in subcutaneous and deep soft tissues, and has been reported all over the body. However, calcifying fibrous tumour originating from the heart is extremely rare. This article describes the case of a giant calcifying fibrous tumour arising from the right ventricle in a child, where the tumour was totally resected and no recurrence was observed during a 4-year follow-up period.

Persistent pulmonary hypertension of the newborn is a source of considerable mortality and morbidity. Anomalous origin of one pulmonary artery, an uncommon congenital cardiac malformation, is a rare cause of persistent pulmonary hypertension. Here, we report the case of a patient with an anomalous origin of one pulmonary artery from the innominate artery who presented with persistent pulmonary hypertension refractory to treatment.

Hypothyroidism in patients undergoing congenital heart defect surgery is known to be possible. This generally temporary condition can progress as it involves yet other factors, increasing the patients’ time to heal. The case presented here is that of a 5-month-old girl who was dependent in the long term on mechanical ventilation following cardiac surgery. After having been diagnosed with hypothyroidism, she was extubated on the fourth day of her hormone replacement therapy, and discharged from hospital on the tenth day.