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.

Coronary anomalies occur in 0.2% to 1.2% of the population, with the anomalous aortic origin of the coronary arteries accounting for one third of these cases. Clinical presentations can vary from asymptomatic to experiencing cardiac symptoms and sudden death, making diagnosis challenging. In this report, we present a novel artificial intelligence-supervised vectorcardiographic analysis and the subsequent successful surgical treatment of a young patient.

Hypertrophic cardiomyopathy in children has diverse causes. Mitochondrial diseases, a rare aetiology leading to cardiomyopathy in 20–40% of affected children, predominantly present as hypertrophic cardiomyopathy. Diagnosis is challenging due to inconsistent genotype-phenotype correlation, resulting in various clinical presentations. We present a case of a one-month-old infant with severe hypertrophic cardiomyopathy and cardiac tamponade. Genetic diagnosis revealed a Valyl-tRNA synthetase 2 (VARS2) gene mutation, linking it to mitochondrial encephalopathy-cardiomyopathy. This case highlights novel variants and expands the understanding of hypertrophic cardiomyopathy aetiology in infants.

Ventriculocoronary connections develop most commonly in children with mitral stenosis/aortic atresia hypoplastic left heart. These connections can lead to myocardial ischaemia and dysfunction. We report a newborn with mitral stenosis/aortic stenosis hypoplastic left heart who endured systemic ventricular injury post-Norwood, secondary to a large ventriculocoronary fistula. He was treated medically and had favourable outcomes following bidirectional Glenn procedure.

We report a 14-month-old male with hypoplastic left heart syndrome, mitral stenosis, and aortic stenosis with native aortic root thrombus. He developed a wide complex ventricular tachycardia and ST-segment elevation myocardial infarction with troponin I levels peaking at 388 ng/mL. He was treated safely with systemic alteplase with a resolution of his regional wall motion abnormality 18 hours later.

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.

Amplatzer Vascular Plug IV (Abbott, USA) is usually used for the occlusion of abnormal tortuous vessels and has not been tried for the transcatheter closure of perimembranous ventricular septal defects with wind-sock morphology. Here, we report on three successful cases of perimembranous ventricular septal defect transcatheter closure using Amplatzer Vascular Plug IV. We did not observe residual shunting or new onset of complications during follow up. These preliminary positive results advocate the application and suitability of Amplatzer Vascular Plug IV for closing wind-sock-like perimembranous ventricular septal defects.

The interesting study has limitations that put the results and their interpretation into perspective. m.3243A>G carriers should undergo prospective testing for multisystem disease to avoid missing subclinical multisystem involvement. m.3243A>G carriers with hypertrophic cardiomyopathy require long-term electrocardiogram recordings to determine whether implantable cardioverter defibrillator implantation is necessary or not. To assess the outcome of m.3243A>G carriers, knowledge of heteroplasmy rates and mtDNA copy numbers is required. It is tempting to assign pathogenicity when any pathogenic variant is seen with genotype-phenotype correlation. However, double hits are possible and if genetic information is to be used to screen or risk-stratify other family members, the standard of care would be to ensure that post-mortem genetic autopsy is performed for a panel of causative genes, and that an autopsy is done to exclude other causes of death, if possible.