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.

Congenital heart disease is associated with congenital diaphragmatic hernia, but diagnosis by echocardiography can be difficult. We present the unusual case of a patient with a double aortic arch and congenital diaphragmatic hernia diagnosed using cardiac magnetic resonance imaging.

Development of dilated cardiomyopathy in patients with congenital complete atrioventricular block with or without pacemaker is well described. We report a case of dilated cardiomyopathy in a child with congenital complete atrioventricular block, long-QT syndrome, and VVI pacemaker. Temporary pacing in the right ventricular outflow tract demonstrated a 63% increase in cardiac output. After change to biventricular DDD pacing, left ventricular systolic function and diastolic dimensions normalised.

Hemitruncus is a rare congenital heart disease. Anomalous origin of the left pulmonary artery is not only rare but also pathogenetically different from anomalous origin of the right pulmonary artery from the ascending aorta. In most cases in isolated hemitrucus pressures in the right ventricle and the normally originating pulmonary artery are systemic or suprasystemic. We present a rare case of anomalous origin of the left pulmonary artery from the ascending aorta diagnosed in an adult with normal pressures in the right ventricle and normally originating pulmonary artery. To the best of our knowledge, this unique haemodynamics has never been reported in the literature.

We report the use of levosimendan in two febrile, neutropenic children with cancer – one post bone marrow transplant – with acute heart failure following chemotherapy. Initial management with epinephrine, milrinone, and diuresis was unsuccessful. Infusion of levosimendan without a loading dose was added to the ongoing heart failure therapy, which resulted in persistent symptomatic and echocardiographic improvement without major side effects.

We describe a rare case of double vascular ring diagnosed with cardiac magnetic resonance imaging in a patient with ventricular septal defect, pulmonary stenosis, and right aortic arch.

Distinguishing the benign and malignant cardiac masses is usually a diagnostic challenge, and safe, non-invasive, and reliable techniques are necessary to avoid any delay in treatment. The previously described “sun ray” appearance is an important sign in the diagnosis of cardiac angiosarcoma, and in this report we present 3-T magnetic resonance imaging findings to distinguish the rare but fatal cardiac angiosarcoma.

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.

We present a neonate with an antenatal diagnosis of Scimitar syndrome and aortic arch hypoplasia. After delivery, computerised tomography scan additionally revealed an anomalous origin of the circumflex coronary artery from the main pulmonary artery. The management of this rare combination is discussed.

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.

There is ongoing debate regarding the initial management of symptomatic neonates with tetralogy of Fallot. Although neonatal repair can be performed with low mortality, it is associated with increased morbidity and long-term impact on right ventricular performance. Traditionally, the modified Blalock–Taussig shunt remains the palliative procedure of choice. Differential pulmonary artery flow may occur and subsequently result in underdevelopment and distortion of pulmonary vessels. Transcatheter therapy was previously limited to balloon valvulotomy when the obstruction is predominantly at the pulmonary valve level. Stenting of the right ventricular outflow tract can enable adequate forward flow; however, pulmonary regurgitation may impact on right ventricular performance and cardiac output. Stenting of the right ventricular outflow tract with valve sparing placement of the stent thus treating the underlying pathophysiology of the hypercyanotic spells provides a safe and effective management strategy, improving arterial oxygen saturation, avoiding pulmonary regurgitation and encouraging pulmonary artery growth.

Coronary artery fistulae are uncommon but may be haemodynamically significant, being an incidental finding in 0.1–0.2% of coronary angiograms. Even rarer is the association between fistulae and non-atherosclerotic coronary artery aneurysms. They most frequently originate in the right coronary artery, and the right cardiac chambers are the most common draining chambers. Most children are asymptomatic, whereas those older than 20 years may present with signs of congestive heart failure, infective endocarditis, myocardial ischaemia, or aneurysm rupture. Management is either surgical or via percutaneous means. We report the case of a 5-year-old child referred for assessment of an asymptomatic cardiac murmur. The echocardiographic evaluation showed an enlarged right atrium, a fenestrated atrial septal defect, and a giant right coronary artery aneurysm with a fistulous tract that appeared to drain directly into the right atrium. Computed angiocardiac tomography and cardiac catherisation confirmed the presence of a large right coronary fistula originating from the right coronary aneurysm draining into the right atrium. The patient underwent surgical ligation of the fistula and the post-operative course has been uneventful. He is currently on double antiaggregation therapy.

We report a case of endocarditis of a transcatheter pulmonary valve-in-valve in a 14-year-old boy with tetralogy of Fallot. He presented with recurrent low-grade fevers, lethargy, and anorexia. Multiple blood cultures grew a gram-positive rod, Corynebacterium pseudodiphtheriticum. He was taken to the operating room for removal of the vegetative endocarditis and pulmonary valve replacement.

We report a case of successful recanalisation of the left pulmonary artery after occlusion due to embolic thrombi in a 9-month-old infant after surgical repair of a common atrioventricular canal with tetralogy of Fallot. A transhepatic approach was used because of caval vein thrombosis. After the failure of high-pressure balloon angioplasty, the left pulmonary artery was successfully recanalised with cutting balloons, followed by stent implantation with an excellent result.

We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.

A left coronary artery arising from the right sinus of Valsalva is a rare congenital coronary anomaly. We report a case of a 5-year-old boy with an anomalous left coronary artery from the right sinus of Valsalva whose presenting sign was cardiac arrest. There is no reported instance of a child <9 years of age without other congenital cardiac defects having died suddenly with this coronary anomaly. The transthoracic echocardiogram demonstrated normal origins of the coronary arteries, but on autopsy, an anomalous origin of the left main coronary artery from the right sinus of Valsalva was found.

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.