Primary ciliary dyskinesia and heterotaxy are rare but not mutually exclusive disorders, which result from cilia dysfunction. Heterotaxy occurs in at least 12.1% of primary ciliary dyskinesia patients, but the prevalence of primary ciliary dyskinesia within the heterotaxy population is unknown. We designed and distributed a web-based survey to members of an international heterotaxy organisation to determine the prevalence of respiratory features that are common in primary ciliary dyskinesia and that might suggest the possibility of primary ciliary dyskinesia. A total of 49 members (25%) responded, and 37% of the respondents have features suggesting the possibility of primary ciliary dyskinesia, defined as (1) the presence of at least two chronic respiratory symptoms, or (2) bronchiectasis or history of respiratory pathogens suggesting primary ciliary dyskinesia. Of the respondents, four completed comprehensive, in-person evaluations, with definitive primary ciliary dyskinesia confirmed in one individual, and probable primary ciliary dyskinesia identified in two others. The high prevalence of respiratory features compatible with primary ciliary dyskinesia in this heterotaxy population suggests that a subset of heterotaxy patients have dysfunction of respiratory, as well as embryonic nodal cilia. To better assess the possibility of primary ciliary dyskinesia, heterotaxy patients with chronic oto-sino-respiratory symptoms should be referred for a primary ciliary dyskinesia evaluation.

We present images and brief clinical summaries of four infants with prominent left ventricular to coronary arterial connections in the setting of hypoplastic left heart, mitral stenosis, and aortic atresia.

Left ventricular twist results from the movement of two orthogonally oriented muscular bands of the helical myocardial structure, with a consequent clockwise rotation of the left ventricular base and counterclockwise rotation of the left ventricular apex. To the best of the authors’ knowledge, this is the first time that left ventricular “rigid body rotation”, the near absence of left ventricular twist in hypoplastic right-heart syndrome, has been demonstrated.

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.

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.

A 9-year-old boy, with a history of repair of severe coarctation of the aorta through balloon angioplasty 2 weeks ago, presented in the emergency paediatric department with symptoms consistent with transient cerebral ischaemia. MRI revealed an area of cerebral infarction in the right frontal lobe. Causes of cerebral ischaemia after aortic coarctation repair are briefly discussed.

Mesalamine-containing products are considered first-line treatment for inflammatory bowel disease. Myocarditis is recognised as a very rare possible side effect of these medications, but has not often been described in the paediatric population. We present a case of an adolescent with Crohn’s disease who presented with myopericarditis after recent initiation of Pentasa. Once identified as the causative agent, the drug was discontinued, with subsequent normalisation of troponin and improvement of function. This case identifies the importance of prompt evaluation, diagnosis, and treatment of paediatric patients receiving mesalamine-containing medications that present with significant cardiovascular symptoms.

Transposition of the great arteries is a common congenital heart defect causing cyanosis in neonates, occurring in 0.2 per 1000 live births. It has been reported to occur with other associated congenital heart lesions. However, its association with a superior sinus venosus defect and partially anomalous pulmonary venous return has not been reported. We present a neonate with transposition of the great arteries, superior sinus venosus defect with partially anomalous pulmonary venous return that underwent successful complete neonatal repair, and discuss important physiological and anatomic considerations.

Percutaneous treatment of aortic coarctation is a widely used option. Covered stents have increased the profile of efficacy and safety of this procedure. Here we report on a 32-year-old woman with significant aortic recoarctation associated with aortic wall aneurysm and close proximity of both lesions to the origin of both the subclavian arteries.

It was decided to manually and partially uncover the proximal part of the stent to have a hybrid stent that could act as a bare stent at the level of the origin of the subclavian arteries and as a covered stent at the level of the aneurysm.

We present a rare congenital heart disease in a 20-year-old man with anomalous origin of the right pulmonary artery from the ascending aorta, accompanied by absent pulmonary valve syndrome, and a right-sided aortic arch suspected initially in transthoracic echocardiography and subsequently confirmed by cardiac catheterisation and computed tomography angiography.

May–Thurner syndrome is a rare clinical entity involving venous obstruction of the left lower extremity. The May–Thurner syndrome is a phenomenon commonly described as an acquired stenosis of the left common iliac vein secondary to compression of the left common iliac vein between the right common iliac artery and the underlying vertebral body. We report one case of May–Thurner syndrome, and another rare case of reverse May–Thurner syndrome, incidently detected during intervention, in a case of aortic stenosis and mitral stenosis with dextrocardia and situs inversus.

It is controversial to observe or close symptomatic congenital coronary artery fistula in infants. We herein describe a medium-sized symptomatic congenital coronary artery fistula that underwent rapid spontaneous closure in an infant aged <3 months.

Diffuse aortitis, as seen in Takayasu disease, is characterised by extreme wall fragility, associated with a high risk of complications such as dissection and aneurysm formation, following endovascular treatment. We report a patient with Takayasu disease who presented with a very difficult clinical course associated with several unfavourable outcomes of stent insertion.

Antiepileptic medications have been reported to cause disturbances in cardiac conduction. Lacosamide decreases seizure burden by modulating sodium channels. Although it has been demonstrated to have few side effects, there have been reports of clinically significant cardiac conduction disturbances. We report the case of a child with hypoplastic left-heart syndrome and well-controlled multifocal atrial tachycardia who developed haemodynamically significant atrial tachycardia after receiving two doses of lacosamide.

Neonatal myocardial infarction is a rare clinical entity that is associated with high mortality. Reported treatment strategies include supportive care, extracorporeal membrane oxygenation, thrombolytics, and surgical thrombectomy. Herein we report a neonate who developed an acute myocardial infarction owing to a thrombus in the proximal left coronary artery. At 24 hours of life, he was treated with local (intracoronary) thrombolytic therapy at a lower dose than previously reported, as well as with systemic anticoagulation. There was subsequent angiographic resolution of the thrombus and normalisation of left ventricular function.

We report on a 6-year-old boy with a huge right coronary artery to the right ventricle fistula, who had previously been treated by device closure at the right ventricular exit point. However, 3 years later, the right coronary artery aneurysm showed progressively dilation and compressed the right ventricle. To prevent further complications related to the aneurysm, the proximal part of the aneurysm was successfully occluded by a vascular plug.