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Constrictive pericarditis is rare in children and can be difficult to diagnose. It has been described in adults after sclerotherapy of oesophageal varices but not in children. We report two cases of chronic constrictive pericarditis after sclerotherapy of oesophageal varices in children with portal cavernoma. Constrictive pericarditis should be considered as a cause of refractory ascites.

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown cause. We aimed to better understand familial recurrence patterns. Methods: An international, multicentre, retrospective cohort study was conducted in 29 tertiary hospitals in 6 countries between 1990 and 2018, entailing investigation of 1043 unrelated ccTGA probands. Results: Laterality defects and atrioventricular block at diagnosis were observed in 29.9% and 9.3%, respectively. ccTGA was associated with primary ciliary dyskinesia in 11 patients. Parental consanguinity was noted in 3.4% cases. A congenital heart defect was diagnosed in 81 relatives from 69 families, 58% of them being first-degree relatives, including 28 siblings. The most prevalent defects in relatives were dextro-transposition of the great arteries (28.4%), laterality defects (13.6%), and ccTGA (11.1%); 36 new familial clusters were described, including 8 pedigrees with concordant familial aggregation of ccTGA, 19 pedigrees with familial co-segregation of ccTGA and dextro-transposition of the great arteries, and 9 familial co-segregation of ccTGA and laterality defects. In one family co-segregation of ccTGA, dextro-transposition of the great arteries and heterotaxy syndrome in 3 distinct relatives was found. In another family, twins both displayed ccTGA and primary ciliary dyskinesia. Conclusions: ccTGA is not always a sporadic congenital heart defect. Familial clusters as well as evidence of an association between ccTGA, dextro-transposition of the great arteries, laterality defects and in some cases primary ciliary dyskinesia, strongly suggest a common pathogenetic pathway involving laterality genes in the pathophysiology of ccTGA.

Transplacental passage of maternal anti-SSA and anti-SSB antibodies, potentially associated with maternal autoimmune diseases, can cause neonatal lupus syndrome. Given the paucity of data in this setting, we report short- and long-term outcomes of mothers of offspring with congenital heart block (CHB).This retrospective study included anti-SSA/SSB antibody-positive mothers of fetuses with high-degree CHB and focused on their health status before pregnancy, at CHB diagnosis, and thereafter.We analyzed 215 women with at least 1 pregnancy with CHB. Prior to this diagnosis, only 52 (24%) mothers had been diagnosed with an autoimmune disease, mainly systemic lupus erythematosus (SLE; n = 26, 12%) and Sjögren syndrome (SS; n = 16, 7%). Six more were diagnosed with an autoimmune disease during the index pregnancy. Of the 157 mothers (73%) with no such diagnosis at childbirth, 77 (49%) developed one after a median follow-up of 11 years (range: 21 days to 54 years). By the end of follow-up, 135 women (63%) had an autoimmune disease diagnosis, mainly SLE (n = 54, 25%) and SS (n = 72, 33%). Three patients with SLE had renal involvement, and only 6 (3%) had required an immunosuppressive drug at any point. The symptoms best predicting autoimmune disease development were arthralgia and myalgia (One-quarter of the patients had an autoimmune disease diagnosis at the time of the fetal CHB diagnosis. Nearly half of those without an initial diagnosis progressed during follow-up, most without severe manifestations. Severe diseases such as lupus nephritis were rarely seen, and immunosuppressive drugs were rarely required.

Background Dilated cardiomyopathy (DCM), a well-known complication of cardiac neonatal lupus, is associated with high mortality rate. Its risk factors remain unclear. Methods We analyzed occurrence of postnatal DCM among children with high-degree congenital heart block (CHB) and mothers with anti-SSA and/or anti-SSB antibodies. Results Among 187 neonates with CHB, 35 (18.8%, one missing data) had DCM and 22 (11.8%) died during a median follow-up of 7years [range: birth–36years]. On multivariate analysis, factors associated with postnatal DCM were in utero DCM ( P =0.0199; HR=3.13 [95% CI: 1.20–8.16]), non-European origin ( P =0.0052; HR=4.10 [95% CI: 1.81–9.28]) and pacemaker implantation ( P =0.0013; HR=5.48 [95% CI: 1.94–15.47]). Postnatal DCM could be categorized in two subgroups: neonatal DCM (n=13, diagnosed at a median age of 0day [birth–4days]) and late-onset DCM (n=22, diagnosed at a median age of 15.2months [3.6months–22.8years]). Factors associated with neonatal DCM were in utero DCM, hydrops, endocardial fibroelastosis and pericardial effusion, whereas those associated with late-onset DCM were non-European origin, in utero mitral valve insufficiency, and pacemaker implantation. Fluorinated steroids showed no protective effect against late-onset DCM ( P =0.27; HR=1.65 [95% CI: 0.63–4.25]). Probability of survival at 10years was 23.1% for newborns diagnosed neonatally with DCM, 53.9% for those who developed late-onset DCM, and 98.6% for those without DCM. Conclusion Neonatal and late-onset DCM appear to be two different entities. None of the known risk factors associated with neonatal DCM predicted late-onset DCM. Long-term follow-up of cardiac function is warranted in all children with CHB.

International audience; In population exposed to cardiovascular risk, aortic stiffness is an important marker which is assessed by carotid-to-femoral pulse wave velocity (PWV). In childhood, the validated applanation tonometer SphygmoCor® can be used to measure PWV, but is limited in routine practice by the child's cooperation and operator's experience. An alternative device, the pOpmètre® is validated in adults and rapidly measures finger-to-toe PWV using 2 oxymeter-like sensors. The aim of this study is to validate the pOpmètre® device in children aged between 4 and 8 years. We compared simultaneous PWV measurements of the two devices, SphygmoCor® and pOpmètre®, in a training group, using the Bland-Altman method. Then we proposed an algorithm to correct pOpmètre® PWV (PWVpop). Finally, we validated this new algorithm in a validation group of children using the Bland-Altman method. This prospective study enrolled 26 children in the training group. Mean PWVpop was 3.919 ± 0.587 m/s and mean SphygmoCor® PWV was 4.280 ± 0.383 m/s, with a difference of-0.362(CI95%(-0.546;-0.178)) m/s. A new algorithm was defined using transit time (TTpop): corrected PWVpop (m/s) = 0.150/TTpop(s) + 1.381*Height(m) + 1.148. We enrolled 24 children in the validation group. Mean corrected PWVpop was 4.231 ± 0.189 m/ s and mean SphygmoCor® PWV was 4.208 ± 0.296 m/s with a corrected difference of 0.023(CI95%(-0.086;0.131)) m/s. With this algorithm correction, we found an agreement between PWV measured by the SphygmoCor® and the pOpmètre®, with a difference of less than 10%. Using this algorithm, the pOpmètre® could be used in clinical or research practice in young children exposed to cardiovascular risk. (This study was registered as NCT02991703).

Background In populations exposed to cardiovascular risk, aortic stiffness is an important marker assessed by the gold standard carotid-to-femoral pulse wave velocity (PWV). In childhood, the aplanation tonometer SphygmoCor® is a validated method, however, it is limited in routine practice by the child's cooperation and operator's experience. The pOpmetre® is a device validated in adults which rapidly measures finger-to-toe PWV using 2 oxymeter-like sensors. Purpose Our objective was to demonstrate the value of the pOpmetre® in children by comparing pOpmetre® to SphygmoCor® PWV measurements. Methods This prospective study enrolled 60 children aged between 4 and 8 years old with a 1 sex ratio from the Nantes University Hospital. Bland and Altman method was used to compare pOpmetre® and SphygmoCor® PWV in a training group and in a validation group. The primary endpoint was reached if the 95% confidence interval (95%CI) of the mean PWV difference was between − 0.450 and + 0.450. Results The mean pOpmetre® PWV (PWVpop) was 3.919 ± 0.587 m/sec and the mean SphygmoCor® PWV was 4.280 ± 0.383 m/sec in the training group (n = 26), with a difference of − 0.362 (95%CI: − 0.546– − 0.178). A new algorithm was defined using transit time (TTpop): corrected PWVpop (m/sec) = 0.150/TTpop (sec) + 1.381 * Height (m) + 1.148. It was tested in the validation group (n = 24): the mean corrected PWVpop was 4.231 ± 0.189 m/sec and the mean SphygmoCor® PWV was 4.208 ± 0.296 m/sec with a corrected difference of 0.023 (95%CI: −0.086–0.131). Conclusion After algorithm correction, we found a good agreement between PWV measured by the SphygmoCor® and the pOpmetre® which seems more appropriate in young children.

OBJECTIVES Although the current surgical approach of tetralogy of Fallot (TOF) is primary complete repair in infancy, late diagnosis and lack of surgical facilities in developing countries may delay surgical treatment. Some of these patients exposed to prolonged chronic hypoxaemia are transferred to more privileged countries to undergo surgical repair with the support of non-governmental organizations. The objective of this single-centre retrospective study was to compare the postoperative outcomes of these foreign patients undergoing delayed repair with those of patients born in France undergoing timely repair during the same time period. METHODS The computer database of our institution was searched for all cases of TOF in foreign patients younger than 15 years, supported by two non-profit organizations, who underwent complete repair between January 2007 and December 2013. The control population consisted of the patients with TOF born in France, who underwent timely complete repair during the same period. RESULTS The 47 foreign children were older (57.6 ± 38.4 vs 8.3 ± 9.1 months, P < 0.0001), more hypoxaemic (SaO2 79 ± 11 vs 91 ± 8%, P < 0.0001), more growth-retarded (body mass index Z-score -1.35 ± 1.5 vs -0.46 ± 1.3, P = 0.0034), and had higher haematocrit level (52.5 ± 11.7 vs 37.5 ± 6.1%

Background Macrosomia and hypertrophic cardiomyopathy are two features often associated in neonates of diabetic mothers. We report the cases of three patients with severe macrosomia and critical hypertrophic cardiomyopathy without severely unbalanced maternal diabetes. Only three patients with those two features and no uncontrolled maternal diabetes have been previously reported. Case presentation The first patient was a 39-week-old girl, the second patient was a 39-week-old girl, and the third patient was a 41-week-old boy. The two French girls and the French boy had severe macrosomia and hypertrophic cardiomyopathy, leading to the death of the boy. The outcome of the two girls was favorable, with a standardization of growth curves and ventricular hypertrophy. Their mothers presented with high body mass index but no severe documented maternal diabetes; glycemic imbalance was only suspected on postnatal analyses. There was no hydramnios during pregnancy and no other environmental factor, especially toxic exposure. Their parents are from Mayotte, Guadeloupe, and Guinea-Conakry. The usual genetics causes, Beckwith–Wiedemann syndrome, and chromosomal copy number variation, were also excluded. Conclusions This report suggests the implication of other factors in addition to glycemic disorders, including genetic factors, in the occurrence of macrosomia and severe hypertrophic cardiomyopathy in neonates. These three original observations indicate that gynecologists and neonatologists should pay attention to neonates from mothers with a high body mass index and when maternal diabetes is not documented. Electronic supplementary material The online version of this article (doi:10.1186/s13256-017-1231-5) contains supplementary material, which is available to authorized users.

Background Patent ductus arteriosus (PDA) is very common in extremely low birth weight babies and may contribute to prolonged mechanical ventilation, bronchopulmonary dysplasia, renal failure, periventricular leukomalacia and necrotizing enterocolitis. When PDA closure is indicated with failure of medical therapy (cyclooxygenase inhibitors or paracetamol), surgical ligation is usually performed with excellent results. Transcatheter closure has been recently developed with promising results but comparative studies with surgical ligation are lacking. Objectives To compare results and outcomes after transcatheter closure using the Amplatzer Piccolo device versus surgical closure in 2 matched groups of pre-term infants weighing ≤ 3000 g. Methods One hundred and forty seven babies (3 tertiary centres) were retrospectively analysed. Sixty-four patients who underwent transcatheter closure were compared with 83 matched surgical patients, using Wilcoxon signed-rank tests. Results PDA closure was successful in all surgical and transcatheter cases. During NICU course, mortality was 6.3% (n = 4) after transcatheter closure and 12% (n = 10) after surgery (P = 0.24). Median duration of mechanical ventilation was shorter after transcatheter closure than after surgical ligation (3 vs. 5 days, P = 0.035). In babies undergoing duct closure before 4 weeks of age the difference between transcatheter and surgical closure for mechanical ventilation during the NICU course was even more pronounced (3 vs. 9 days, P = 0.022). When transcatheter closure was performed before 4 weeks, babies were discharged home earlier as compared to those who underwent closure later in life (39 + 1 vs. 41 + 5 weeks, P = 0.021). Such difference was not found in the surgical group. Conclusion Transcatheter PDA closure in low birth weight babies is safe, effective and associated with improved mechanical ventilation as compared to surgery. It may offer shorter hospital stay when performed earlier in life.

We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.

Interest has increased in the use of exogenous stem cells to optimize lung repair and serve as carriers of a therapeutic gene for genetic airway diseases such as cystic fibrosis. We investigated the survival and engraftment of exogenous stem cells after intratracheal injection, in a murine model of acute epithelial airway injury already used in gene therapy experiments on cystic fibrosis. Embryonic stem cells and mesenchymal stem cells were intratracheally injected 24 hr after 2% polidocanol administration, when epithelial airway injury was maximal. Stem cells were transfected with reporter genes immediately before administration. Reporter gene expression was analyzed in trachea-lungs and bronchoalveolar lavage, using nonfluorescence, quantitative, and sensitive methods. Enzyme-linked immunosorbent assay quantitative results showed that 0.4 to 5.5% of stem cells survived in the injured airway. Importantly, no stem cells survived in healthy airway or in the epithelial lining fluid. Using 5-bromo-4-chloro-3-indolyl-beta-d-galactopyranoside staining, transduced mesenchymal stem cells were detected in injured trachea and bronchi lumen. When the epithelium was spontaneously regenerated, the in vivo amount of engrafted mesenchymal stem cells from cell lines decreased dramatically. No stem cells from primary culture were located within the lungs at 7 days. This study demonstrated the feasibility of intratracheal cell delivery for airway diseases with acute epithelial injury.

BackgroundOwing to systemic inflammatory response syndrome, the diagnosis of post-operative infection after cardiopulmonary bypass is difficult to assess in children with the usual clinical and biological tools. Procalcitonin could be informative in this context.MethodsRetrospective study in a paediatric intensive care unit. Blood samples were collected as soon as infection was clinically suspected and a second assay was performed 24 hours later. Using referenced criteria, children were retrospectively classified into two groups: infected and non-infected.ResultsOut of the 95 children included, 14 were infected. Before the third post-operative day, procalcitonin median concentration was significantly higher in the infected group than in the non-infected group – 20.24 nanograms per millilitre with a 25th and 75th interquartile of 15.52–35.71 versus 0.72 nanograms per millilitre with a 25th and 75th interquartile of 0.28 to 5.44 (p = 0.008). The area under the receiver operating characteristic curve was 0.89 with 95% confidence intervals from 0.80 to 0.97. The best cut-off value to differentiate infected children from healthy children was 13 nanograms per millilitre with 100% sensitivity – 95% confidence intervals from 51 to 100 – and 85% specificity – 95% confidence intervals from 72 to 91. After the third post-operative day, procalcitonin was not significantly higher in infected children – 2 nanograms per millilitre with a 25th and 75th interquartile of 0.18 to 12.42 versus 0.37 nanograms per millilitre with a 25th and 75th interquartile of 0.24 to 1.32 (p = 0.26). The area under the receiver operating characteristic curve was 0.62 with 95% confidence intervals from 0.47 to 0.77. A procalcitonin value of 0.38 nanograms per millilitre provided a sensitivity of 70% with 95% confidence intervals from 39 to 89 for a specificity of 52% with 95% confidence intervals from 34 to 68. After the third post-operative day, a second assay at a 24-hour interval can improve the sensitivity of the test.ConclusionsProcalcitonin seems to be a discriminating marker of bacterial infection during the post-operative days following cardiopulmonary bypass in children.

Objective To evaluate the impact of preoperative management on in-hospital post-operative outcomes after an arterial switch operation (ASO) in newborns with transposition of the great arteries (TGA) Methods In this retrospective monocentric study, we included all newborns with TGA±ventricular septal defect who underwent an ASO between 2008 and 2014. Collected data included demographics, clinical and anatomic characteristics, and preoperative management (Rashkind, prostaglandin infusion, mechanical ventilation, age at surgery). Univariate and multivariate analyses were performed to study the impact of preoperative characteristics on time to extubation, a surrogate marker of postoperative morbidity. Results Among the 59 included newborns, 47 (79%) had an antenatal diagnosis, 31 (52%) received prostaglandins (median duration: 96 h; range 0-192h), and 38 (65%) underwent a Rashkind procedure. Mean age at surgery was 5±2 days. The mortality rate was 5% (n=3). Younger age at surgery significantly increased the probability to be extubated within 2 days after surgery, both in univariate analysis (Odd ratio 0.64; confidence interval 0.44-0.92) (p=0.01) and after adjustment for preoperative characteristics and management (OR 0.61; CI 0.39-0.95) (p=0.03). The presence of coronary anomalies tended to increase time to extubation, whereas Rashkind procedure and prostaglandin treatment had no impact. Conclusion Our study shows that younger age at surgery is associated with lower postoperative morbidity in newborns undergoing an ASO. These findings suggest that early surgery is preferable to delay with palliative management such as Rashkind and/or Prostaglandins.