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Abstract Background Congenital heart diseases (CHDs) remain a significant cause of infant morbidity and mortality. Epidemiological studies have explored maternal risk factors for offspring CHDs, but few have used genetic epidemiology methods to improve causal inference. Methods Three birth cohorts, including 65,510 mother/offspring pairs (N = 562 CHD cases) were included. We used Mendelian randomisation (MR) analyses to explore the effects of genetically predicted maternal body mass index (BMI), smoking and alcohol on offspring CHDs. We generated genetic risk scores (GRS) using summary data from large-scale genome-wide association studies (GWAS) and validated the strength and relevance of the genetic instrument for exposure levels during pregnancy. Logistic regression was used to estimate the odds ratio (OR) of CHD per 1 standard deviation (SD) higher GRS. Results for the three cohorts were combined using random-effects meta-analyses. We performed several sensitivity analyses including multivariable MR to check the robustness of our findings. Results The GRSs associated with the exposures during pregnancy in all three cohorts. The associations of the GRS for maternal BMI with offspring CHD (pooled OR (95% confidence interval) per 1SD higher GRS: 0.95 (0.88, 1.03)), lifetime smoking (pooled OR: 1.01 (0.93, 1.09)) and alcoholic drinks per week (pooled OR: 1.06 (0.98, 1.15)) were close to the null. Sensitivity analyses yielded similar results. Conclusions Our results do not provide robust evidence of an effect of maternal BMI, smoking or alcohol on offspring CHDs. However, results were imprecise. Our findings need to be replicated, and highlight the need for more and larger studies with maternal and offspring genotype and offspring CHD data.

Abstract Background Our aim was to comprehensively review published evidence on the association between having a congenital heart disease (CHD) compared with not, on educational attainment (i.e. not obtaining a university degree, completing secondary education, or completing any vocational training vs. obtaining/completing) in adults. Method Studies were eligible if they reported the rate, odds, or proportion of level of educational attainment in adults by whether or not they had a CHD. Result Out of 1537 articles screened, we identified 11 (N = 104,585 participants, 10,487 with CHD), 10 (N = 167,470 participants, 11,820 with CHD), and 8 (N = 150,813 participants, 9817 with CHD) studies reporting information on university education, secondary education, and vocational training, respectively in both CHD and non-CHD participants. Compared to their non-CHD peers, CHD patients were more likely not to obtain a university degree (OR = 1.38, 95% CI [1.16, 1.65]), complete secondary education (OR = 1.33, 95% CI [1.09, 1.61]) or vocational training (OR = 1.11, 95% CI [0.98, 1.26]). For all three outcomes there was evidence of between study heterogeneity, with geographical area contributing to this heterogeneity. Conclusion This systematic review identified all available published data on educational attainment in CHD patients. Despite broad inclusion criteria we identified relatively few studies that included a comparison group from the same population, and amongst those that did, few adjusted for key confounders. Pooled analyses suggest evidence of lower levels of educational attainment in patients with CHD when compared to non-CHD peers. The extent to which this may be explained by confounding factors, such as parental education, or mediated by treatments is not possible to discern from the current research literature.

Abstract Background Cortisol is the main stress hormone mobilised during surgery to establish homeostasis. Our current understanding of the hypothalamic-pituitary-adrenal axis physiology in children undergoing cardiopulmonary bypass is very limited due to: (1) very few cortisol time point measurements over long periods (2) difficulties of sampling in low weight babies and (3) the concomitant use of glucocorticoids at anaesthesia induction. This lack of understanding is reflected in a lack of consensus on the utility of glucocorticoids perioperatively in cardiac surgery with the use of cardiopulmonary bypass. Methods The Peacock Study is a prospective, two-centre, observational cohort study of 78 children (undergoing cardiopulmonary bypass procedures and non-surgical procedures - split by age/cyanosis) that aims to characterise in detail the hypothalamic-pituitary-adrenal axis physiology of children using the stress model of paediatric cardiac surgery. Also, we aim to correlate cortisol profiles with clinical outcome data. We herein describe the main study design and report the full cortisol profile of one child undergoing heart surgery, thus proving the feasibility of the method. Results We used an automated, 24-h tissue microdialysis system to measure cortisol and cortisone, every 20 min. We herein report one cortisol profile of a child undergoing heart surgery. Besides, we measured serum cortisol and adrenocorticotrophic hormone at seven-time points for correlation. Tissue concentrations of cortisol increased markedly several hours after the end of surgery. We also noted an increase in the tissue cortisol/cortisone ratio during this response. Conclusion We report for the first time, the use of an automated microdialysis sampling system to evaluate the paediatric adrenal response in children. Changes in cortisol and cortisone could be measured, and the concentration of cortisol in the tissues increased after the end of cardiac surgery. The method has wide application to measure other hormones dynamically and frequently without the limitation of the circulating blood volume. The data from the main study will clarify how these cortisol profiles vary with age, pathology, type of procedure and correlation to clinical outcomes. Trial registration ISCRTN registry, number: 982586.

Abstract Introduction Complications following Cardiopulmonary resuscitation (CPR) are rare and usually follows a vigorous CPR or in special cases like pregnancy are due to lack of knowledge and clinical practice of how to preform CPR in pregnancy. One of this complication is diaphragmatic rupture with herniation of abdominal organs. Surgical intervention needs to be planned carefully in multidisciplinary team approach and requires fine surgical techniques for better outcome. There are few reported cases of diaphragmatic rupture after Cardiopulmonary resuscitation but none in pregnant woman. Case presentation We report a rare case of diaphragmatic rupture in a 29-year-old pregnant patient who experienced a full-blown diaphragmatic defect and herniation of the abdominal organs into the thoracic cavity, as a complication of CPR. Following careful assessment and diagnosis, the patient underwent urgent laparotomy with reduction of the contents and primary closure of the defect. One year follow up was satisfactory. To the best of our knowledge, this is the first reported case of diaphragmatic rupture with herniation of the abdominal organs following CPR in a pregnant woman in the literature. Conclusion The application of external cardiac massage through CPR is a life-saving procedure for the management of cardiac arrest. Common complications related to CPR include rib fractures, sternal fractures and haemothorax. Diaphragmatic rupture with herniation of the abdominal organs is a rare complication, having been reported only once in the literature (Sabzi F, Faraji R, Tanaffos 16:170–172, 2017); however, it represents a serious and life-threating event. Thus, careful evaluation of the patient by a multidisciplinary team and prompt intervention is recommended in order to improve outcomes.

Abstract Background Idiopathic pulmonary artery aneurysm is a rare anomaly with only a handful reports in the literature. It is often asymptomatic, while the first presentation could be severe hemoptysis or death. Surgical intervention needs to be planned carefully with a multidisciplinary team approach to secure optimal outcome. We hope to spread our experience with such cases and to encourage other surgeons worldwide to deal surgically with these cases when its indicated. Case presentation A 47 years old man presented to our institution after three episodes of hemoptysis, echo demonstrated good left ventricle (LV) systolic function, normal right ventricle (RV) size and function, Chest computed tomography (CT) revealed aneurysmal dilatation with pending rupture of the pulmonary artery trunk (4.5 cm), the left pulmonary artery (6 cm) and the right pulmonary artery (2.3 cm). The patient successfully underwent replacement of Pulmonary artery trunk, left pulmonary artery and right pulmonary artery by Wovex Prosthetic graft (28 mm). The patient discharged home on the eight postoperative day in good clinical condition . Conclusion With this case report we wish to emphasize the need for a careful multidisciplinary approach given the complex and rare nature of the reported pathology.

An amendment to this paper has been published and can be accessed via the original article.

Background: Bicuspid aortic valve (BAV) is a congenital heart disease associated with aortic wall abnormalities and co-existing with other congenital defects (e.g. aortic coarctation). This study aimed to explore aortic shape features in a BAV population, identifying sub-groups with different aortic morphologies. Methods: Single-centre retrospective study. Patients with an MRI scan and native BAV diagnosis between 2011 and 16 were studied (n = 525); those with a 3D MRI dataset were included for shape analysis (n = 108, 64% males, 38 ± 16.5 years). MRI-derived 3D aortic reconstructions were analysed using a statistical shape modelling framework [1]. A mean aortic shape (‘template’) was computed and shape deformations were correlated with demographic, volumetric and functional data. Results: Aortic coarctation (n = 71) was significantly associated with a more gothic arch (p = 0.02), more tubular ascending aorta and descending aorta dilation (p < 0.001). Also, smaller aortic size in patients with coarctation was associated with the younger age of this group (33 ± 13 vs. 47 ± 19, p < 0.001), given the overall relationship between aortic size and age (p < 0.001). Aortic stenosis (n = 30) was also associated with gothic arch (p = 0.01), and dilated ascending aorta but with no aortic root dilation (p = 0.02). On multivariate regression analysis, gothic arch was indeed associated with coarctation and stenosis, and also with non-coronary valve fusion pattern (p = 0.03). Patients with aortic regurgitation tended to have larger aortas (p = 0.005). Conclusion: The presence of aortic coarctation and stenosis may influence the amount of dilation and the overall arch architecture in BAV patients. Patients with BAV present profoundly different morphological phenotypes depending on the presence/absence of aortic coarctation (Fig. 1). Figure 1Shape features of coarctation (CoA) vs no CoA in BAY population. A) The ‘template’ (or average shape) for patients with CoA on the left, and patients without CoA on the right. B) Patients with CoA have tubular ascending aortas (left), while patients without CoA tend to have increased ascending aortic dilation (right). C) Patients with CoA have more a gothic arch (left), whereas patients without CoA have a rounder arch (right).

The original article [1] contained an error whereby the author, Ahmad Darwazah’s name was spelt incorrectly.