Myxomatous degeneration of one or more cardiac valves has been reported in trisomy 18, Noonan, Marfan, and Ehlers-Danlos syndromes. 6q25.1 (TAB2) deletion is one of the notable causes for myxomatous degeneration of cardiac valves. Whole exome sequencing must be considered in these subsets of cases for effective prenatal counselling. A 23-week fetus presented with cardiomegaly, redundant myxomatous tricuspid, mitral valve leaflets, thickened pulmonary valve, and bicuspid aortic valves detected to have 6q25.1 (TAB2) deletion was presented with literature review.

The atrial switch procedure by Senning or Mustard technique primarily aims in correcting parallel systemic and pulmonary circulations at atrial level. This procedure may be used in late presenting D-transposition of great arteries with a deconditioned left ventricle, congenitally corrected transposition of great arteries and isolated ventricular inversion. We describe the case of a child with dextrocardia, left atrial isomerism with complex pulmonary and systemic venous drainage resulting in mixing at atrial level. She was successfully operated by modified Senning procedure performed through the left-sided atrium.

We report the first-stage percutaneous palliation in a newborn with a rare heterotaxy syndrome variant including interrupted inferior vena cava, partial anomalous pulmonary venous drainage, and restrictive interatrial communication. Virtual reality imaging aided visualisation, decision-making, and planning. Successful atrial septoplasty performed via the internal jugular vein and anomalous pulmonary vein was followed by stenting of ductus arteriosus.

While infradiaphragmatic total anomalous pulmonary venous drainage to portal vein is well described, hemianomalous drainage of right pulmonary veins to portal vein in Scimitar syndrome has not yet been reported.

We report the case of a 16-year-old female with previously diagnosed bilateral sub-segmental pulmonary emboli who presented in cardiogenic shock from depressed biventricular function with cardiac MRI demonstrating concern for microvascular coronary injury. She was ultimately diagnosed with catastrophic antiphospholipid antibody syndrome-induced ischaemic cardiomyopathy, potentially associated with an underlying autoimmune connective tissue disease.

Mid-aortic syndrome is an uncommon vascular disease characterised by lower thoracic and upper abdominal aorta stenosis and can occur even in neonatal or infant periods. Here, we report an interesting case of a 2-month-old female with diffuse hypoplasia of the lower abdominal aorta and secondary dilated cardiomyopathy. In our patient, her abdominal aortic narrowing spontaneously normalised over time with the administration of consistent and goal-directed heart failure therapy, supporting adequate growth and natural recovery.

Submitral aneurysm is a rare type of non-ischaemic ventricular aneurysm. We describe the case of a 26-year-old woman with progressive dyspnoea for approximately 1 year who was diagnosed with a ruptured submitral aneurysm in the left atrium with severe regurgitation. The patient underwent aneurysm correction and mitral valve repair, and post-operative echocardiography showed no residual abnormalities. The patient remains asymptomatic.

Coronary artery compression by a dilated pulmonary artery is a rare complication in patients with tetralogy of Fallot with absent pulmonary valve. We present a case in which this condition manifested at two months of age, with ventricular fibrillation as the initial symptom of myocardial ischaemia. It is important to recognise that this potentially fatal complication can occur in early infancy.

Ebstein’s anomaly is rarely accompanied by coarctation of the aorta, although patients with Ebstein’s anomaly have a relatively small left ventricle. Here, we report a rare case of Ebstein’s anomaly with coarctation of the aorta and a bicuspid aortic valve. We compared the foetal echocardiographic parameters of five previous cases with Ebstein’s anomaly without left heart obstruction to explore the association between left ventricular volume, Ebstein’s anomaly severity, and left heart obstruction.

Percutaneous pulmonary valve implantation is established as a safe and effective method of treating patients with disfunction of right ventricular outflow tract. Modifications of this method allow for an increasingly wider use of this less invasive treatment. We present a staged percutaneous pulmonary valve implantation into a single-branch pulmonary artery in a paediatric patient with tetralogy of Fallot after patch repair.

We report the case of a 9-year-old male with severe congenital pulmonary valve stenosis referred to our centre for percutaneous valvotomy. On admission, trans-thoracic echocardiogram confirmed a unicuspid pulmonary valve with a peak/mean pulmonary valve gradient of 91/53 mmHg and a pulmonary annulus of 13.8 mm (−0.8 Z Score). It also showed an enlarged RV (RV/LV ratio 0,9). During cardiac catheterisation, an additional atrial septal defect (secundum) with significant left to right shunt (Qp/Qs > 2) was diagnosed, which was not amenable to percutaneous closure. The patient was referred for surgical repair.

The atrial septal defect was closed by a direct running suture. The repair of the unicuspid valve consisted in bicuspidisation by a large commissurotomy to the left anterior wall of the pulmonary artery. The neo-commissure was created with two separate patches of autologous pericardium secured to the wall of the pulmonary root. The adjustment of the effective height of the pulmonary valve leaflets was done by trimming the patches and a triangular plication of the newly created posterior leaflet. Perioperative echocardiogram showed a peak gradient of 15 mm Hg and trivial pulmonary regurgitation. The total cross-clamp time was 92 min and the bypass time 123 min with a favourable evolution after the surgery.

The particularity of the case is represented by the complexity of the bicuspidisation procedure. Using this technique, a tailored approach is needed for every patient.

The atrial flow regulator is a new self-expandable double-disc fenestrated device providing a calibrated inter-atrial communication. Paediatric reports are scarce. We herein describe a case of complete atrioventricular block complicating the exemption use of an atrial flow regulator in a 5-kg infant with transposition of the great arteries, ventricular septal defect, and right ventricular outflow tract obstruction.

Isolated native pulmonary valve endocarditis is rare. We present a rare case of isolated native pulmonary valve endocarditis resulting in severe right ventricular outflow tract obstruction in an immunocompetent patient with surgically repaired ventricular septal defect caused by Burkholderia cepacia.

We present the case of a premature neonate with pericardial effusion secondary to extravasation of total parenteral nutrition from a mispositioned/migrated umbilical venous catheter. Emergency pericardiocentesis was complicated by an intrapericardial thrombus, which was managed conservatively with spontaneous resolution within 24 hours. This case illustrates that the rare complication of an intrapericardial thrombus after pericardiocentesis can be successfully managed conservatively with close monitoring in haemodynamically stable paediatric patients.

Danon disease is a rare X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2. We report a case of hypertrophic obstructive cardiomyopathy secondary to a novel mutation in the lysosome-associated membrane protein-2 gene in a 10-year-old male adolescent. We performed a modified extended Morrow procedure to minimise the risk of death and improve the patient’s quality of life. The patient did not have exertional dyspnoea, and auscultation did not reveal a cardiac murmur at 1-year follow-up.

Prinzmetal angina is a rare condition more likely to be reported in adults. Vasospasm is by far notable for causing this condition. We present a case of Prinzmetal angina in a 17-year-old male who experienced unexplained resting chest pain for 2 days.

The soft nitinol KONAR-MF™ ventricular septal defect (VSD) Multifunctional Occluder (MFO) device is increasingly used for transcatheter perimembranous ventricular septal defect closure. We report for the first time a case of delayed complete atrioventricular block with pacemaker implantation 20 months post-procedure. Through a systematic review, the overall rate of persistent complete atrioventricular block was 0.6% with this device, but follow-up duration was limited.

Atresia of the aortic valve is usually associated with hypoplasia of the mitral valve and the left ventricle. In very rare cases, a ventricular septal defect may be associated with aortic atresia, when left ventricle and mitral valve are normal-sized, due to the presence of an outflow for the left ventricle through the ventricular septal defect. We present the multi-modality imaging findings of an adolescent girl who presented with breathlessness and was later found to have aortic valvar atresia with a normal-sized left ventricle.