We report on a boy with severe pulmonary arterial hypertension associated with mucolipidosis, a rare lysosomal storage disorder. During diagnostic catheterisation, we found increased endothelin-1 levels, but normal big endothelin-1-levels (the precursor form of endothelin-1), which suggests impaired degradation of endothelin-1 rather than increased synthesis. As endothelin-1 degradation takes place in the lysosome, it appears likely that lysosomal dysfunction caused by the underlying disease contributes to the development of pulmonary arterial hypertension in this patient.

A 4.5-year-old child with severe idiopathic pulmonary arterial hypertension underwent right-heart catheterisation, showing suprasystemic pulmonary pressure and a tiny patent ductus arteriosus with trivial right-to-left shunting. The ductus arteriosus was successfully stented with a bare metal stent. At 1-year follow-up, a remarkable improvement was observed in clinical status, functional capacity, and serology. Echocardiography confirmed a favourable cardiac remodelling.

We report a case of cardiac rhabdomyomas in an infant who presented with right ventricular tachycardia, and a clinical picture of infective endocarditis. Typical features of tuberous sclerosis developed subsequently. To the best of our knowledge, cardiac rhabdomyoma has not been reported previously in association with infective endocarditis.

We report a case of reversible diaphragmatic paralysis caused by a malpositioned chest tube, a diagnosis to consider when unexplained respiratory failure occurs following drainage of pleural effusion. Prompt recognition and removal of the tube led to full recovery of diaphragm function.

Infantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy.

Reactive hyperemia index is a measure of endothelial function used to assess subclinical atherosclerosis. When evaluated in healthy adolescents, significant changes in endothelial function were correlated with advancing age, pubertal status, and blood pressure. Blood pressure was the principal contributor to reactive hyperemia index variability independent of age, lipid profile, body mass index, and/or pubertal status. Interpretation of this peripheral vascular marker should include age and maturational changes in paediatric patients.

Owing to increased life expectancy, patients with grown-up congenital heart disease nowadays present various types of arrhythmias. We report treatment of a 27-year-old patient with tricuspid and pulmonary atresia who was referred to our department with symptomatic tachycardia. During electrophysiologic study, a diagnosis of typical AV-nodal re-entrant tachycardia was made, and he was successfully treated despite the described anatomic malformation.

In the spectrum of mitral valve anomalies, unguarded mitral orifice is an exceedingly rare malformation, with only four cases described in the current literature. All previously reported cases have been associated with discordant atrioventricular connections. We describe the first known case of unguarded mitral valve orifice, in the setting of atrioventricular concordance, in a newborn with hypoplastic left heart syndrome.

A Japanese girl first pointed out the mass in the left atrial appendage by the echocardiography on the 3rd day of life. At 30th day of life, the mass in the left atrial appendage was excised en bloc successfully under cardiopulmonary bypass because it appeared mobile. Its pathologic finding revealed an old organised thrombus. She is doing well with no episode of thrombus formation or thromboembolism, 2 years postoperatively.

Isolation of the left subclavian artery is a rare anomaly associated with acyanotic CHDs and right aortic arch. This condition can be asymptomatic or can present with neurological and left upper-limb ischaemic symptoms; it does not form a vascular ring. Treatment options include implantation of the subclavian artery to the aortic arch vessels and closure of the patent ductus arteriosus to prevent pulmonary run off. Here we describe a child who was incidentally detected to have this condition during evaluation of atrial septal defect for device closure.

Radiofrequency ablation is the first-line treatment for arrhythmias with high success and low complication rates. Skin burns have been reported rarely after electrophysiological procedures, especially procedures in which higher-power energy is used and multiple ablations are performed. Here, we report a case of skin burn that developed after radiofrequency ablation for ventricular tachycardia originating from the right ventricular outflow tract.

Respect for patient autonomy is an important and indispensable principle in the ethical practice of clinical medicine. Legal tenets recognise the centrality of this principle and the inherent right of patients of sound mind – properly informed – to make their own personal medical decisions. In the course of everyday medical practice, however, challenging cases may result in ethical dilemmas for the patient, the physician, and society. Resolution of these dilemmas requires a thorough understanding of the underlying principles that allow the clinician to make informed decisions and to offer considered therapeutic options to the patient. We argue in this paper that there is also need for a transition of moral competency from understanding principles to attaining virtue in the classic Aristotelian tradition. Achieving moral virtue is based on a lifetime of learning, practising, and watching how others, who have achieved virtue, act and perform their duties. We further claim that learning moral virtue in medical practice is best realised by incorporating the lessons learnt during daily rounds where frank discussions and considered resolutions can occur under the leadership of senior practitioners who have achieved a semblance of moral excellence.

We present the case of a 29-year-old man with mutation-positive Duchenne muscular dystrophy and mutation-positive hypertrophic cardiomyopathy. His cardiac phenotype has characteristics of both disorders; he manifests sub-epicardial left ventricular free wall late gadolinium enhancement that is consistent with Duchenne cardiomyopathy, as well as asymmetric ventricular septal hypertrophy, hyperdynamic left ventricular systolic function, and septal mid-myocardial late gadolinium enhancement, which are characteristic of hypertrophic cardiomyopathy.

Post-infective pseudoaneurysm of the left ventricle in children is very rare, with only five cases reported in English medical literature so far. Patients usually have a short history of infection by Staphylococcus aureus. Timely surgical intervention has generally a good outcome. We present a case of post-infectious pseudoaneurysm in a 2-year-old girl with a review of literature.

The treatment of rare and expensive medical conditions is one of the defining qualities of paediatric cardiology and congenital heart surgery. Increasing concerns over healthcare resource allocation are challenging the merits of treating more expensive forms of congenital heart disease, and this trend will almost certainly continue. In this manuscript, the problems of resource allocation for rare and expensive medical conditions are described from philosophical and economic perspectives. The argument is made that current economic models are limited in the ability to assess the value of treating expensive and rare forms of congenital heart disease. Further, multi-disciplinary approaches are necessary to best determine the merits of treating a patient population such as those with significant congenital heart disease that sometimes requires enormous healthcare resources.

Limb ischaemia is a rare but catastrophic complication related to cardiac catheterisation. We report an infant weighing 3 kg with unrepaired tricuspid atresia type 1b, small patent ductus arteriosus, and ventricular septal defect presenting with cardiogenic shock owing to progressively reduced pulmonary blood flow from closing ventricular septal defect and patent ductus arteriosus. An emergency palliative ductal stent was successfully placed with marked clinical improvement. However, acute limb ischaemia developed necessitating above-knee amputation, despite medical management and vascular surgery. The cause of limb loss in our patient was catheterisation-related vascular injury causing arterial dissection–arterial thrombosis in the presence of shock and coagulopathy. This report emphasises the complexity in managing limb ischaemia associated with coagulopathy and highlights the importance of early recognition of reduced pulmonary flow in a single ventricle patient. Timely elective placement of a surgical systemic to pulmonary shunt would prevent catastrophic clinical presentation of compromised pulmonary flow and avoid the need for an emergent life-saving intervention and its associated complications.

Anomalous origin of the right coronary artery from the posterior, non-coronary sinus is extremely rare and has never been reported in a paediatric-age competitive athlete. We report this very rare case of the right coronary artery arising from the posterior sinus. In the anomalous right coronary from the posterior sinus, the proximal right coronary artery appears widely patent and has no interarterial course.

Plastic bronchitis is a severe complication after a Fontan procedure, with an estimated incidence around 1–2% and poor prognosis. We present the cases of four patients with plastic bronchitis after a total cavopulmonary connection with a stenosis of the left pulmonary artery that was stented successfully. In three of the four patients, symptoms improved after catheter intervention in combination with pulmonary vasodilator and inhalative treatment.

Acute type A aortic dissection is a catastrophic situation, often accompanied by aortic regurgitation. A rarely described cause of aortic regurgitation, in this clinical scenario, is the prolapse of an intimal flap into the left ventricular outflow tract. We present here a case of acute type A aortic dissection with a circumferential intimal flap, prolapsing into the left ventricular outflow tract and causing massive aortic regurgitation.