Laminopathies represent a group of inherited disorders, with emerging novel and atypical manifestations. We present the case of a 17-year-old boy with LMNA mutation, showing dilated cardiomyopathy, aortic root dilatation, pontine cavernous angiomas, sensorineural hearing loss, and osteogenic sarcoma. These findings expand the known phenotypic spectrum of laminopathies and highlight the need for multidisciplinary evaluation from a young age.

Superior vena cava obstruction following paediatric cardiac surgery is a rare yet serious complication. After arterial switch operations, four neonates diagnosed with acute superior vena cava thrombosis were treated using transcatheter interventions. The importance of early recognition and implementation of transcatheter intervention for a successful outcome is emphasised.

This case report describes a rare incidence of innominate artery compression syndrome in a 5-month-old infant, presenting with severe respiratory symptoms. It highlights the diagnostic challenges, the detailed imaging techniques used, and the surgical intervention that resulted in a successful resolution of symptoms, emphasising the importance of early recognition and intervention in paediatric vascular anomalies.

Transcatheter device closure of a large perimembranous ventricular septal defect with left-to-right shunt was attempted with an antegrade transvenous approach and a conventional arteriovenous loop facilitated, both of which were unsuccessful. We succeeded with an indigenous technique of advancing the delivery sheath towards the left ventricular apex from the venous side with the help of a cut pigtail, keeping the arteriovenous loop.

Middle aortic syndrome is rare cause of secondary hypertension, typically manifesting in childhood or early adolescence. It involves obstructive narrowing of the aorta, often occurring in the distal thoracic and abdominal aorta and its major branches. While the exact cause of middle aortic syndrome is not fully understood, it has been linked to hereditary genetic conditions such as Williams syndrome. This case report describes a 16-year-old female with Williams syndrome who presented with abdominal pain and hematochezia. CT angiography revealed moderate narrowing of the abdominal aorta, consistent with a diagnosis of middle aortic syndrome.

The genesis and significance of epsilon waves still remains an enigma. In this case report, we document occurrence of epsilon waves in a neonate with left ventricular diverticulum and its disappearance after the surgical division of the diverticulum. We postulate that the presence of myocardial cells in the diverticulum was the cause for epsilon waves.

A preterm newborn (36 weeks, 2000 g) was diagnosed with hepatic hemangiomas during routine screening. Echocardiography revealed cardiac hemangiomas and pericardial effusion, requiring drainage. Propranolol was initiated for hepatic involvement. Over three years, cardiac and hepatic hemangiomas regressed without complications. This rare coexistence highlights the importance of multidisciplinary management and long-term follow-up.

A newborn with right atrial isomerism, single-ventricle physiology, supracardiac total anomalous pulmonary venous connection, and pulmonary atresia underwent vertical vein stenting, resulting in ductus arteriosus compression. Subsequent ductal stenting restored patency, preventing haemodynamic compromise and ensuring survival. This case highlights the risk of secondary ductal obstruction in vertical vein stenting and the importance of early recognition and intervention.

Hydatid cyst is an infectious disease that occurs in humans due to infection of Echinococcus granulosus larvae. Although cardiac hydatid cysts are rare, right atrial localisation is even rarer. The aim of this article is to emphasise the importance of always being alert and prepared for the risk of anaphylaxis developing due to cyst rupture in paediatric patients with isolated cardiac hydatid cysts, to initiate oral albendazole treatment immediately upon diagnosis, to underline the importance of surgical timing, and to discuss the role of clinical assessment and imaging methods in predicting of cyst rupture.

The dominant focus on rheumatic aetiology of mitral regurgitation (MR) often overshadows other causes. This challenges optimal management when the aetiology is non-rheumatic, as exemplified below in an 8-year-old girl, hailing from Uganda, who was diagnosed and managed as rheumatic MR with unusually elevated and persistent systemic inflammatory state with chronic renal dysfunction disproportionate to her cardiac status. Further workup led towards the possibility of early onset systemic lupus erythematosus (SLE). The valvular involvement in SLE closely resembles rheumatic heart disease (RHD). A high level of clinical suspicion is essential for diagnosing childhood-onset SLE. Coexistence of RHD and SLE is extremely rare and has significant implications for management.

Cardio-facial-cutaneous syndrome is a rare genetic disorder that typically presents with a combination of CHDs, distinctive facial features, and cutaneous abnormalities. Cardio-facial-cutaneous syndrome is usually caused by a genetic change in the BRAF gene but can also be due to genetic change in the MAP2K1, MAP2K2, or KRAS genes. It is an autosomal dominant condition, but most cases are not inherited, due to new genetic change that occurs in the formation of the egg or sperm or shortly after fertilisation. It has been seen previously in the literature where the patient required a mitral valve replacement because of insufficiency. In this case report, we describe a patient with cardio-facial-cutaneous syndrome who also presented with mitral valve prolapse. This rare association expands the spectrum of cardiovascular manifestations in cardio-facial-cutaneous syndrome and highlights the importance of comprehensive cardiovascular evaluation in these patients.

Since 2014, transcatheter paravalvular leak closure with the Occlutech Paravalvular Leak Device has been successfully accomplished in adults with high technical success. We describe the first successful use of the Occlutech Paravalvular Leak Device in the left atrio-ventricular valve in the United States in a 5-year-old child with a history of previously repaired atrio-ventricular septal defect.