Primary liver tumours in neonates with single-ventricle palliation are exceedingly rare. We present the first reported case of neonatal hepatoblastoma with severe Ebstein’s anomaly following Starnes procedure. The patient’s postoperative course highlights the challenges and complications in simultaneous management of these diagnoses. Transition from shunted single-ventricle physiology to bidirectional cavopulmonary connection improved end-organ function, permitting more aggressive hepatic malignancy treatment.

Unilateral absence of the pulmonary artery is a rare congenital cardiovascular anomaly that can lead to pulmonary hypertension and poor outcomes. We report the case of a 1-month-old infant with isolated unilateral absence of the pulmonary artery and severe pulmonary hypertension on the right and left sides, respectively. The patient was unresponsive to multiple medications for pulmonary hypertension, and surgical revascularisation was unfeasible. However, iloprost inhalation was effective.

A 65-day-old girl presented to the emergency room with lethargy, requiring emergency venoarterial extracorporeal membrane oxygenation for refractory cardiogenic shock. Initially, hypoplastic left heart syndrome was suspected. However, cor triatriatum with a pinpoint opening on the membrane was diagnosed based on a detailed echocardiographic examination. After membrane resection, the left heart size was restored. However, follow-up echocardiography performed 4 months later showed occlusion of both upper pulmonary veins and stenosis in both lower pulmonary veins. Hybrid balloon angioplasty was performed in all pulmonary veins, and stents were inserted into the right upper and lower pulmonary veins. Despite repeated balloon angioplasty, all pulmonary vein stenosis progressed over 6 months and the patient expired while waiting for a heart-lung transplant. Even after successful repair of cor triatriatum, short-term close follow-up is required for detecting the development of pulmonary vein stenosis.

A 12-year-old female with pulmonary artery stenosis developed pseudoaneurysms due to septic embolism, requiring close follow-up.

Pulmonary vein stenosis continues to pose significant challenges in children, frequently requiring repeated cardiac catheterisation procedures. This report describes a successful application of a “triple kissing balloon” technique to treat complex pulmonary vein stenosis in two patients, all accomplished with the use of a single 6-French sheath.

We report a 20-year-old female patient (76 Kg/164 cm) with an extra-cardiac Fontan circulation who was referred to our institution for exertional dyspnoea and desaturation. The patient was diagnosed with a large calcified thrombus at the level of the Fontan fenestration, protruding inside the lumen of the conduit and reducing the diameter by half with a 3 mmHg pressure gradient. Transcatheter stent expansion of the obstructed extra-cardiac conduit was done with a 48 mm long XXL PTFE-covered Optimus-CVS® under temporary cerebral embolic protection with a TriGUARD-3™ deflection filter device (Keystone Heart). There was no procedural complication and the 3 months clinical outcomes are good.

Left ventricular tumour is a rare condition in children. The causes include vegetations, thrombus, and fibroma. 2-year-old asymptomatic female presented with an innocent heart murmur at 6 months of age. Subsequent follow-ups at 18 months of age showed left ventricular mass. Surgical pathology revealed “nodular fasciitis.” This type of tumour has never been described in the heart before.

Heritable thoracic aortic aneurysms are complex conditions characterised by the dilation or rupture of the thoracic aorta, often occurring as an autosomal-dominant disorder associated with life-threatening complications. In this case report, we present a de novo variant, MFAP5 c.236_237insA (p.N79Kfs9), which is implicated in the development of inherited thoracic aortic aneurysm. The proband, a 15-year-old male, presented with recurrent cough, dull chest pain, chest distress, vomiting, and reduced activity tolerance, leading to the diagnosis of heritable thoracic aortic aneurysms. Whole-exome sequencing identified a novel heterozygous variant in MFAP5 (NM_003480, c.236_237insA, and p.N79Kfs9). MutationTester and PolyPhen-s predicted this variant to be damaging and disease-causing (probability = 1), while the SFIT score indicated protein damage (0.001). Structural analysis using the AlphaFold Protein structure database revealed that this mutation disrupted the N-linked glycosylation site, resulting in a frameshift, amino acid sequence alteration, and truncation of an essential protein site. To our knowledge, this is the first case report describing a young patient with heritable thoracic aortic aneurysm carrying the novel MFAP5 c.236_237insA (p.N79Kfs*9) variant. This variant represents the third identified mutation site associated with heritable thoracic aortic aneurysm. Given the high mortality and morbidity rates associated with thoracic aortic aneurysms, the prevention of severe and fatal complications is crucial in the clinical management of this condition. Our case highlights the importance of whole-exome sequencing and genetic screening in identifying potential pathogenic or likely pathogenic variants, particularly in early-onset patients with aortic dilation, to inform appropriate management strategies.

We report a case of an alternative transcatheter use of the modified Medtronic microvascular plug to modify fenestration stent flow in a patient with a rapidly deteriorating clinical condition. This four-year-old boy developed severe cyanosis following fenestration stent insertion, initially placed due to prolonged drainage post-Fontan with extra-cardiac conduit. In April 2023, he underwent urgent cardiac catheterisation and had partial occlusion of fenestration stent with a modified 9Q microvascular plug. His oxygen saturations improved from 50 to 89% in room air with no re-emergence of raised cavopulmonary pressures.

Myocarditis is an inflammatory disease of the heart muscle that most commonly occurs after infectious diseases in childhood. The clinical picture of acute myocarditis ranges from asymptomatic infection to fulminant heart failure and sudden death (1). Most of the patients may present with nonspecific symptoms such as respiratory distress, chest pain, nausea, and vomiting (2). While rhythm abnormalities such as ventricular and supraventricular rhythm disorders can be observed in these patients, various degrees of atrioventricular blocks may rarely develop (3). In this article, we aimed to present a patient who developed second-degree, high-grade atrioventricular block after myocarditis and recovered completely after treatment.

KCNT1 mutations are associated with childhood epilepsy, developmental delay, and vascular malformations. We report a child with a likely pathogenic KCNT1 mutation (c.1885A>C, p.Lys629Glu) with recurrent pulmonary haemorrhage due to aortopulmonary collaterals successfully managed with coil embolisation followed by right upper lobectomy.

We present a clinical case of a teenager in whom a Brugada syndrome electrical pattern was found which was finally diagnosed as a Brugada phenocopy due to a wrong setup of the high-pass filter on the electrocardiogram

Although Kawasaki disease is often self-limiting, significant cardiovascular sequelae may occur in the acute or late stage. The most common late complication is persistent coronary artery aneurysm, which can lead to myocardial ischaemia and even myocardial infarction. We report a case of coronary artery bypass grafting in a 16-year-old boy with a history of undiagnosed Kawasaki disease. Increased awareness of Kawasaki disease, especially among children between the ages of 6 months and 5 years, can increase early treatment and prevent serious complications that may occur in the future.