Objective: The aim of this study was to explore the acute psychosocial risk in families with infants undergoing surgery for a congenital heart disease and, secondarily, to explore the psychosocial impact of antenatal versus post-natal diagnoses. Method: The study sample comprised 39 caregivers (28 mothers) of 29 children diagnosed with a congenital heart disease and requiring surgery within the first 4 weeks of life. Psychosocial risk was measured using the Psychosocial Assessment Tool, which was adapted to include four novel items examining infant risk factors, namely, sleeping, feeding, crying, and bonding difficulties. Parents’ psychosocial risk was measured within 4 weeks after their child's surgery and stratified into a three-tiered framework: Universal, Targeted, and Clinical risk. Results: Of the total sample, 61.5% of parents were classified as Universal, that is, at lowest risk; 35.9% as Targeted, and 2.6% as Clinical. The within-family parent total Psychosocial Assessment Tool score correlations were non-significant, and there were no differences between families of infants who received post-natal versus antenatal diagnosis or single ventricle versus biventricular repair. Linear regression found that a higher parent education significantly predicted a lower total Psychosocial Assessment Tool score. Conclusions: Findings indicate that, although the majority of parents adapt to the acute stress of surgery for a serious cardiac illness in their infant, the remaining 38.5% report an increased psychosocial risk associated with higher rates of emotional distress, which may impact on the parental quality of life and capacity for optimal parenting. The distribution of psychosocial risk in parents of children undergoing surgery for a congenital heart disease is consistent with that described for parents of children with other serious paediatric diagnoses.

Background: Children with myocarditis have multiple risk factors for thrombotic events, yet the role of antithrombotic therapy is unclear in this population. We hypothesised that thrombotic events in critically ill children with myocarditis are common and that children with myocarditis are at higher risk for thrombotic events than children with non-inflammatory dilated cardiomyopathy. Methods: This is a retrospective chart review of all children presenting to a single centre cardiac intensive care unit with myocarditis from 1995 to 2008. A comparison group of children with dilated cardiomyopathy was also examined. Antithrombotic regimens were recorded. The primary outcome of thrombotic events included intracardiac clots and any thromboembolic events. Results: Out of 45 cases with myocarditis, 40% were biopsy-proven, 24% viral polymerase chain reaction-supported, and 36% diagnosed based on high clinical suspicion. There were two (4.4%) thrombotic events in the myocarditis group and three (6.7%) in the dilated cardiomyopathy group (p = 1.0). Neither the use of any antiplatelet or anticoagulation therapy, use of intravenous immune globulin, presence of any arrhythmia, nor need for mechanical circulatory support were predictive of thrombotic events in the myocarditis, dilated cardiomyopathy, or combined groups. Conclusions: Thrombotic events in critically ill children with myocarditis and dilated cardiomyopathy occurred in 6% of the combined cohort. There was no difference in thrombotic events between inflammatory and non-inflammatory cardiomyopathy groups, suggesting that the decision to use antithrombotic prophylaxis should be based on factors other than the underlying aetiology of a child's acute decompensated heart failure.

Our aim is to screen miRNAs and genes related to tetralogy of Fallot and construct a co-expression network based on integrating miRNA and gene microarrays. We downloaded the gene expression profile GSE35490 (miRNA) and GSE35776 (mRNA) of tetralogy of Fallot from the Gene Expression Omnibus database, which includes eight normal and 15 disease samples from infants, and screened differentially expressed miRNAs and genes between normal and disease samples (cut-off: p < 0.05; FDR < 0.05; and log FC > 2 or log FC < −2); in addition, we downloaded human miRNA and their targets, which were collected in the miRNA targets prediction database TargetScan, and selected ones that also appeared in our differentially expressed miRNAs and their predicted targets (score >0.9) and then made a relationship of diff_miRNAs and diff_genes of our results. Finally, we uploaded all the diff_target genes into String, constructed a co-expression network regulated by diff_miRNAs, and performed functional analysis with the software DAVID. Comparing normal and disease lesion tissue, we got 32 and 875 differentially expressed miRNAs and genes, respectively, and found hsa-miR-124 with 34 diff_target genes and hsa-miR-138 with two diff_target genes. Then we constructed a co-expression network that contains 231 pairs of genes. Genes in the network were enriched into 14 function clusters, and the most significant one is protein localisation. We screened the tetralogy of Fallot-related hsa-miR-124 and hsa-miR-138 with their direct and indirect differentially expressed target genes, and found that protein localisation is the significant cause affecting tetralogy of Fallot. Our approach may provide the groundwork for a new therapy approach to treating tetralogy of Fallot.

Hypoplastic left-heart syndrome and critical aortic stenosis with severely restricted or intact foramen ovale are associated with high neonatal mortality and poor long-term outcome. Despite accurate foetal diagnosis and successful postnatal catheter-based and surgical intervention, the 1-month survival rate is about 33%. Changes in pulmonary vascular architecture resulting in pulmonary hypertension result in important long-term morbidity. Prenatal relief of left atrial and pulmonary hypertension may promote normal pulmonary vascular and parenchymal development and improve short- and long-term outcomes. Foetal atrial balloon septostomy, laser perforation, and stenting of the foetal interatrial septum are the current options for foetal therapy. This paper provides an overview of foetal diagnosis, selection of patients for foetal intervention, and interventional techniques, and also reviews the current status of foetal and postnatal outcomes after intrauterine intervention.

Valvar cardiac disease accounts for a large percentage of heart lesions in the paediatric population. There are a variety of congenital and acquired valvar lesions produced by different mechanisms that produce unique physiologies. With the development of more advanced cardiac interventional procedures and congenital cardiac surgery techniques, most of these lesions can be repaired in a single or multi-stage approach. Given the potential for significant symptomatology before intervention, it is imperative to review the critical care management of paediatric valvar heart disease. The purpose of this article is to provide an overview of the current critical care management of valvar cardiac disease. We approach each cardiac valve individually in order to review the pathophysiology caused by valve dysfunction (obstruction and incompetence) and elaborate on the most frequent diagnoses, specific cardiac physiology, potential for other organ system associations, and perioperative management.

Background: The gold standard for determining the left ventricular ejection fraction is cardiac magnetic resonance imaging. Other parameters for determining the ejection fraction such as M-mode echocardiography are operator-dependant and often inaccurate. Assessment of the displacement of the mitral valve annulus using two-dimensional speckle tracking echocardiography may provide an accurate and simple method of determining the left ventricular ejection fraction in children. Method: We retrospectively studied 70 healthy 9-year-old children with no history of cardiovascular disease who had been assessed using cardiac magnetic resonance imaging and two-dimensional transthoracic echocardiography. Mitral displacement was determined using the tissue motion annular displacement (TMAD) feature of Philips QLAB version 9. The midpoint displacement of the mitral valve was calculated, and the predicted left ventricular ejection fraction was compared with magnetic resonance imaging-derived and M-mode-derived ejection fractions. Results: The mean ejection fraction derived from magnetic resonance imaging (64.5 (4.6)) was similar to that derived from the TMAD midpoint (60.9 (2.7), p = 0.001) and the M-mode (61.9 (7), p = 0.012). The TMAD midpoint correlated strongly with the magnetic resonance imaging-derived ejection fraction (r = 0.69, p < 0.001), as did the predicted fraction (r = 0.67, p < 0.001). The M-mode ejection fraction showed a poor linear correlation with both magnetic resonance imaging-derived and TMAD-derived fractions (r = 0.33 and 0.04, respectively). Conclusion: TMAD of the mitral valve is a simple, effective, and highly reproducible method of assessing the ejection fraction in normal children. It shows a strong linear correlation with magnetic resonance imaging-derived ejection fraction and is superior to M-mode-derived ejection fractions.

Foetal echocardiography has become an established subspecialty in paediatric cardiology. The skills to perform detailed assessment of foetal cardiac anomalies in a tiny, moving foetus surrounded by sometimes challenging layers of maternal tissue are not easy to obtain, and require prolonged periods of specific training and supervised scanning in expert centres. The goal of this overview is to discuss the importance of the awareness of the fact that expert examination of the foetal heart and in-depth knowledge of newborn surgical interventions are only a part of the picture; many cardiac abnormal foetuses do not just have an isolated cardiac defect. The extracardiac malformations, when present, play a major role in determining the treatment and prognosis. The challenge of providing optimal prenatal care to the pregnant woman, who remains the primary patient at least until the umbilical cord is cut, carrying a foetus with a cardiac malformation is to organise rapid, effective, and complete evaluation of all possible foetal anomalies in a multidisciplinary team approach, followed by clear and honest non-directive counselling on all possible options. Only then, with the maximum involvement of the parents, decisions on perinatal management can be taken by the team. Controversies do exist in view of various obstetric, paediatric, and other specialists on how to best organise this multidisciplinary care programme. In this paper, we provide a practical, logical, and efficient path of care for the pregnant woman suspected to carry a foetus with a heart defect.

The tricuspid valve is being increasingly recognised as an important safeguard to the heart with congenital heart disease. Both structural anomalies of the valve and functional burdens from other malformations of the right heart can lead to major haemodynamic consequences both upstream and downstream. The indications to surgically intervene on the tricuspid valve are evolving and vary depending on the malformation. The extant surgical techniques and their applications to corresponding frequent congenital anomalies of the tricuspid valve are reviewed.

Objectives: This publication aims to report the cases of four children with pseudoaneurysm of the mitral-aortic intervalvular fibrosa and carry out a review of the literature. Background: Pseudoaneurysm of the mitral-aortic intervalvular fibrosa is a very rare anomaly in children. It can be either congenital or acquired, namely, after bacterial endocarditis or cardiac trauma. This pathology does not usually cause specific symptoms but its outcome may be potentially fatal. Methods: We report the cases of four patients presenting with pseudoaneurysm of the mitral-aortic intervalvular fibrosa, referred for treatment in a paediatric cardiology clinic. Patient clinical notes were retrospectively reviewed for aetiology, clinical presentation, diagnostic work-up, surgical treatment, and follow-up. Literature on the subject was extensively reviewed. Results: In three patients, pseudoaneurysm of the mitral-aortic intervalvular fibrosa was acquired, being secondary to bacterial endocarditis in two cases and establishing after mitral surgery in another case. The remaining patient had a “congenital” aetiology – no other cause could be traced. The diagnosis was achieved by transthoracic echocardiography for all patients, and confirmed in all by trans-oesophageal echocardiography, to better define morphological details and to access flow into the aneurysmal formation. All patients were submitted to corrective cardiac surgery. Of the patients, three survived and were cured by surgery, staying asymptomatic, and one died after repeated interventions, for persistent endocarditis. Conclusions: Pseudoaneurysm of the mitral-aortic intervalvular fibrosa is a rare but potentially fatal anomaly. In our experience, surgical cure was achieved for the majority of the cases, except for a case for which infection could not be locally eradicated, leading to multiple reinterventions.

Primary cardiac tumours in infants and children are extremely rare, with an estimated incidence of 0.2% according to echocardiographic studies. Owing to their rarity, there is very little literature available, and most knowledge is based on collections of case reports. Therefore, we reviewed retrospectively our 27 years of clinical experience on the overall management of cardiac tumours among children in order to improve not only our knowledge but also to provide others with information about the incidence, clinical presentation, management, and long-term outcome of this rare disease. Between April, 1982 and April, 2009, 52 children were diagnosed with cardiac tumours at our Institution. Medical records and follow-up echocardiographic evaluations were studied. The diagnosis was prenatal in 35% of the patients. The most frequent tumour types were rhabdomyomas (61.5%), fibromas (15.4%), and myxomas (5.8%). There were no cases of primary malignant tumours. All diagnoses were achieved using two-dimensional echocardiography, and for 12 patients a pathological analysis was carried out. A total of 41 patients (79%) were managed medically, whereas 11 (21%) patients underwent surgical treatment. At a mean follow-up of 7.2 ± 5.4 years, two patients died of complications related to cardiac transplantation; all the remaining patients are in excellent clinical condition. In conclusion, cardiac tumours in paediatric practice are usually clinically and histologically benign. Only a few cases need surgery. Up to one-third of the cardiac masses are detectable prenatally. Rhabdomyoma is the most common histotype, followed by fibroma and myxoma. The long-term prognosis is generally good.

Objectives: The purpose of this study was to investigate whether the objective medical parameters related to congenital heart disease and patients’ ratings of cardiac disease severity were related to psychological well-being and illness behaviour during the pre-operative period. Methods: A total of 143 patients (63 male patients; 16–73 years old) with congenital heart disease evaluated the severity of their cardiac condition using a numerical rating scale ranging from 0, indicating the least severe condition, to 100, indicating the most severe condition. Psychological well-being was assessed using the Psychological General Well-Being Index (total score ≤60 indicating severe distress) and illness behaviour using the Illness Behavior Questionnaire. Results: Pre-operative psychological well-being was not related to the objective medical parameters reflecting cardiac disease severity. In contrast, total psychological well-being scores correlated significantly with patients’ subjective ratings of disease severity (p < 0.001). When compared with the reference values from the Italian population, the mean scores of the patients on psychological well-being were similar. As regards the Illness Behavior Questionnaire, the scores on denial were higher and those on hypochondria were lower compared with other hospitalised patients. Conclusions: This study shows that the perception of cardiac disease severity, and not the medical parameters in congenital heart disease, is related to the patients’ pre-operative psychological state. Thus, more importance needs to be given to assessing the patients’ pre-operative perception and psychological state independently of cardiac severity. Targeted interventions with regard to the cardiac condition are recommended.

Objectives: This study sought to investigate the prevalence of atrial septal aneurysms in the paediatric population and to define coexisting abnormalities and their incidence. Background: Few papers refer to the prevalence of atrial septal aneurysms in childhood. Methods: We enrolled a total of 4522 children aged more than 12 months who underwent a transthoracic echocardiography. Atrial septal aneurysm was defined as a protrusion of the interatrial septum or part of it >15 mm beyond the plane of the atrial septum or phasic excursion of the interatrial septum during the cardiorespiratory cycle of at least 15 mm in total amplitude and a diameter of the base of the aneurysm of at least 15 mm. Results: Atrial septal aneurysms were found in 47 children (1.04%). They involved almost the entire septum in 14 patients (28.89%) and were limited to the fossa ovalis in 33 (71.11%). An atrial septal aneurysm was an isolated structural defect in 17 (35.56%). In 30 (64.44%) patients, it was associated with interatrial shunting – atrial septal defect and patent foramen ovale. At the echo follow-up after a year, no changes were recorded. Conclusions: Prevalence of atrial septal aneurysms is almost 1%. The most common abnormalities associated are interatrial shunts, that is, a patent foramen ovale and an atrial septal defect. From a medical point of view, it is suggested that no action is to be taken during childhood, as a child with an atrial septal aneurysm is not at increased risk compared with a child without one. Follow-up is scheduled on an individual basis.

Despite tremendous advances in surgical treatment of tetralogy of Fallot, augmenting the small right ventricular outflow tract remains a challenge. Transannular patch augmentation revolutionised surgical management, but did so at the expense of rendering patients with pulmonary insufficiency and the resulting problems associated therewith. Recent surgical efforts have focused on pulmonary valve preservation at initial correction and pulmonary valve restoration after transannular patching, with favourable results. In this manuscript, we review methods of pulmonary valve preservation and restoration.