A case of related individuals affected by sick sinus syndrome is presented in this study. The clinical and electrocardiographic signs of sinus node dysfunction and the most common causes of this disease are presented. Subsequently, the article includes descriptions of sinus node disease in three related children as well as details of the disease in their relatives. A literature review of the genetics of familial sinus node dysfunction concludes the study.

Patients with Fontan palliation and single-ventricle physiology encounter multiple comorbidities including plastic bronchitis, a disease characterised by the plugging of small and large airways by rubbery, white casts. To date, no controlled clinical trials have demonstrated effective treatment of plastic bronchitis. We report the application of aerosolised heparin, which has published success in non-cardiac-related pulmonary disease, for this complication in a Fontan patient.

We report a case of fistula between the descending aorta and the left atrium with associated aortopulmonary window and secundum atrial septal defect. No previous reports of such association have been found in the literature. A 5-month-old infant presented with heart failure from the age of 2 weeks. Echocardiography confirmed the presence of an aorto–left atrial fistula, aortopulmonary window, and atrial septal defect. The diagnosis was additionally supported by computed tomography. The entity aorto–left atrial fistula is rare. It is mostly acquired and usually between the ascending aorta and the right atrium or right ventricle or left ventricle. We do not know about all the associated anomalies, which have implications in management. There is a case report of ascending aorto–left atrial fistula associated with bicuspid aortic valve and anomalous origin of coronaries. Here we are reporting a case of descending aorto–left atrial fistula associated with aortopulmonary window.

A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels.

Cardiac valve cysts are rare beyond infancy. The tricuspid and mitral valve are the most common sites, with few reported cases of pulmonary valve cysts in the literature. This case illustrates a pulmonary valve cyst mimicking a tumour in a child 13 years after cardiac surgery. Although these lesions are extremely rare, they could be considered in the differential diagnosis in patients presenting with valvular mass lesions.

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.

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.

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.

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.

Intrapericardial teratomas are extremely rare and most often benign tumours. In this paper, we have described a case of intrapericardial teratoma diagnosed prenatally and successfully operated. The presented case is noteworthy as an example of potentially catastrophic cardiorespiratory distress caused by the space-occupying nature of the tumour. A multi-disciplinary approach is mandatory because the tumour most often arises from the ascending aorta and in some cases may require the use of cardiopulmonary bypass.

We describe aortic root dilatation, severe aortic regurgitation, and pulmonary artery stenosis that were accidentally diagnosed 23 years after the arterial switch operation for transposition of the great arteries in situs inversus. We successfully performed the modified Bentall procedure and pulmonary artery reconstruction. The pathology of the dilated aortic root revealed intimal atherosclerosis and linear necrosis of the tunica media, suggesting the vulnerability of the pulmonary artery to systemic pressure.

A newborn baby girl was diagnosed with tetralogy of Fallot and an aortopulmonary window. At 3 weeks of age, the coexistent diagnosis of an anomalous left coronary artery from the pulmonary artery was made. Initial surgical intervention included a Takeuchi baffle of the left coronary artery, closure of the aortopulmonary window, and placement of a right Blalock–Taussig shunt. Complete repair was undertaken at 12 months of age. Close pre-operative assessment of the coronary arterial anomaly is crucial in patients with an aortopulmonary window and tetralogy of Fallot.

Cardiac involvement is a rare initial presentation of systemic lupus erythematosus. An 11-year-old girl was described to have massive haemorrhagic pericardial effusion and cardiac tamponade, which was later diagnosed as systemic lupus erythematosus. Therefore, in children presenting with cardiac tamponade, systemic lupus erythematosus should be considered as one of the differential diagnoses, as morbidity and mortality associated with cardiac tamponade can be dramatically reduced with early diagnosis and use of steroids.

A 12-year-old girl presented with a protein-losing enteropathy. Symptoms started 4 weeks after undergoing the Fontan procedure at the age of 1.5 years for mitral atresia, ventricular septal defect, and double-outlet right ventricle. Upon referral for 3 weeks of rehabilitation after multiple interventional measures and drug treatments, she appeared in a dystrophic state, with decreased plasma protein and electrolyte levels along with occasional tetanic convulsions. Blood glucose levels after a lactose tolerance test were markedly reduced. The introduction of a lactose-free diet was quickly effective, with plasma protein and electrolyte levels raised to normal levels, and the girl's body weight increased without ascites or oedema. Molecular genetic examination revealed a homozygous C/C13910 polymorphism in the LCT gene. Conclusion: Protein-losing enteropathy in the Fontan circulation may be provoked by lactase deficiency and should therefore be ruled out to exclude this rather common condition.

Neonatal acute myocardial infarction is a rare event that carries a high mortality rate. We describe the cases of two newborns who survived acute myocardial infarction and discuss the management. The first neonate was born with severe asphyxia and left ventricular myocardial infarction with ventricular tachycardia. In this patient, systemic flow was maintained by right-to-left shunting through the patent ductus arteriosus. The second neonate presented with a haematocrit of 80% and an inferolateral myocardial infarction. Intensive treatment of low cardiac output syndrome led to survival of both high-risk neonates. In the follow-up, at 48 and 4 months, respectively, ventricular function recovered in both patients.