Search

Résumé Le syndrome de Loeys-Dietz est une forme rare de maladie du tissu conjonctif dont les symptômes sont apparentés au syndrome de Marfan mais dont le phénotype peut être plus fruste. Mise en évidence récemment, cette affection demeure méconnue, alors que ses conséquences peuvent être dramatiques, notamment en raison des atteintes cardiovasculaires. Nous rapportons le cas d’une enfant de 4 ans suivie pour une luxation congénitale de la hanche chez laquelle un examen systématique a mis en évidence une hyper-élasticité cutanée et une luette bifide, faisant évoquer une pathologie du tissu conjonctif. Les signes squelettiques étaient frustes, la taille étant normale pour l’âge. Il n’y avait pas d’antécédents familiaux, cardiologiques ou non, en faveur d’une pathologie des tissus conjonctifs. Les explorations cardiologiques ont permis de découvrir un anévrysme de l’aorte ascendante au niveau du sinus de Valsalva (26 mm, Z-score + 4,24). L’analyse génétique a mis en évidence une mutation du gène transforming growth factor-beta receptor type II ( TGFβR2 ), posant le diagnostic de syndrome de Loeys-Dietz. Des atteintes squelettiques associées à une bifidité de la luette ou un hypertélorisme et un anévrysme de l’aorte ascendante doivent orienter l’enquête génétique vers la recherche d’une vasculopathie par anomalie de la voie du TGFβ telle que le syndrome de Loeys-Dietz. Summary Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26 mm, Z-score = +4.24). A genetic investigation found a TGFβR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-β vasculopathy such as Loeys-Dietz syndrome. [ABSTRACT FROM AUTHOR]

Background: Bacterial infections (BIs) are widespread in ICUs. The aims of this study were to assess compliance with antibiotic recommendations and factors associated with non-compliance., Methods: We conducted an observational study in eight French Paediatric and Neonatal ICUs with an antimicrobial stewardship programme (ASP) organised once a week for the most part. All children receiving antibiotics for a suspected or proven BI were evaluated. Newborns < 72 h old, neonates < 37 weeks, age ≥ 18 years and children under surgical antimicrobial prophylaxis were excluded., Results: 139 suspected (or proven) BI episodes in 134 children were prospectively included during six separate time-periods over one year. The final diagnosis was 26.6% with no BI, 40.3% presumed (i.e., not documented) BI and 35.3% documented BI. Non-compliance with antibiotic recommendations occurred in 51.1%. The main reasons for non-compliance were inappropriate choice of antimicrobials (27.3%), duration of one or more antimicrobials (26.3%) and length of antibiotic therapy (18.0%). In multivariate analyses, the main independent risk factors for non-compliance were prescribing ≥ 2 antibiotics (OR 4.06, 95%CI 1.69-9.74, p = 0.0017), duration of broad-spectrum antibiotic therapy ≥ 4 days (OR 2.59, 95%CI 1.16-5.78, p = 0.0199), neurologic compromise at ICU admission (OR 3.41, 95%CI 1.04-11.20, p = 0.0431), suspected catheter-related bacteraemia (ORs 3.70 and 5.42, 95%CIs 1.32 to 15.07, p < 0.02), a BI site classified as "other" (ORs 3.29 and 15.88, 95%CIs 1.16 to 104.76, p < 0.03), sepsis with ≥ 2 organ dysfunctions (OR 4.21, 95%CI 1.42-12.55, p = 0.0098), late-onset ventilator-associated pneumonia (OR 6.30, 95%CI 1.15-34.44, p = 0.0338) and ≥ 1 risk factor for extended-spectrum β-lactamase-producing Enterobacteriaceae (OR 2.56, 95%CI 1.07-6.14, p = 0.0353). Main independent factors for compliance were using antibiotic therapy protocols (OR 0.42, 95%CI 0.19-0.92, p = 0.0313), respiratory failure at ICU admission (OR 0.36, 95%CI 0.14-0.90, p = 0.0281) and aspiration pneumonia (OR 0.37, 95%CI 0.14-0.99, p = 0.0486)., Conclusions: Half of antibiotic prescriptions remain non-compliant with guidelines. Intensivists should reassess on a day-to-day basis the benefit of using several antimicrobials or any broad-spectrum antibiotics and stop antibiotics that are no longer indicated. Developing consensus about treating specific illnesses and using department protocols seem necessary to reduce non-compliance. A daily ASP could also improve compliance in these situations., Trial Registration: ClinicalTrials.gov: number NCT04642560. The date of first trial registration was 24/11/2020., (© 2024. The Author(s).)

Background: After the COVID-19 pandemic reached France in January 2020, a national lockdown including school closures was officially imposed from March 17, 2020, to May 10, 2020. Pediatric intensive care units (PICUs) admit critically ill infants, children and teenagers with severe acute conditions, in particular infectious and traumatic diseases. We hypothesized that PICU admissions would be considerably modified by the lockdown. Aims: The objectives of the study were to describe the type of admissions to French PICUs and to compare the occupation of PICU beds according to local epidemic conditions during the French national lockdown period, compared with the same period the previous year. Methods: We conducted a retrospective multicenter study in 14 French PICUs. All children aged from 7 days to 18 years admitted to one of the 14 participating PICUs over two 3-month period (March 1, 2020, to May 31, 2020 and March 1, 2019, to May 31, 2019) were included. Analysis was based on data extracted from the medicalized information systems program (a national database used in all French hospitals, into which all admissions and their diagnoses are coded for the purpose of calculating hospital funding). Each main diagnosis was reclassified in 13 categories, corresponding to normal PICU admissions. Results: We analyzed a total of 3,040 admissions, 1,323 during the 2020 study period and 1,717 during the same period in 2019. Total admissions decreased by 23% [incidence rate ratio (IRR) 0.77, 95% CI 0.71-0.83, p < 0.001], in particular for viral respiratory infections (-36%, IRR 0.64, 95% CI 0.44-0.94, p = 0.001). Admissions for almost all other diagnostic categories decreased, except intoxications and diabetes which increased, while admissions for cardiac and hemodynamic disorders were stable. Patient age and the sex ratio did not differ between the two periods. Median length of stay in the PICU was longer in 2020 [4 (IQR 2-9) vs. 3 (IQR 1-8) days, p = 0.002] in 2019. Mortality remained stable. Conclusions: In this large national study, we showed a decrease in the number of PICU admissions. The most severe patients were still admitted to intensive care and overall mortality remained stable., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Breinig, Mortamet, Brossier, Amadieu, Claudet, Javouhey, Angoulvant and Arnaud.)

Background: New three-dimensional echocardiographic automated software (HeartModel) is now available to quantify the left heart chambers. The aims of this study were to assess the feasibility, reproducibility, and analysis time of this technique and its correlation with manual three-dimensional echocardiography (3DE) and cardiac magnetic resonance (CMR) in children., Methods: Ninety-two children (5-17 years of age) were prospectively included in two separate protocols. In protocol 1, 73 healthy children underwent two-dimensional and three-dimensional transthoracic echocardiography. Left ventricular (LV) end-diastolic volume (LVEDV), LV end-systolic volume (LVESV), LV ejection fraction (LVEF), and left atrial volume at ventricular end-systole (LAV) by automated 3DE were compared with the same measurements obtained using manual 3DE. In protocol 2, automated three-dimensional echocardiographic measurements from 19 children with cardiomyopathy were compared with CMR values., Results: Automated 3DE was feasible in 77% of data sets and significantly reduced the analysis time compared with manual 3DE. In protocol 1, there were excellent correlations for LVEDV, LVESV, and LAV between automated 3DE and manual 3DE (r = 0.89 to 0.99, P < .0001 for all) and a weak correlation for LVEF, despite contour adjustment (r = 0.57, P < .0001). Automated 3DE overestimated LVEDV, LVEF, and LAV with small biases and underestimated LVESV with wider bias. With contour adjustment, the biases and limits of agreement were reduced (bias: LVEDV, 0.9 mL; LVESV, -1.2 mL; LVEF, 2.2%). In protocol 2, correlations between automated 3DE with contour edit and CMR were good for LV volumes and LAV (r = 0.76 to 0.94, P < .0003 for all) but remained weak for LVEF (r = 0.46, P = .05). Automated 3DE slightly underestimated LV volumes (relative bias, -7.2% to -7.8%) and significantly underestimated LAV (relative bias, -31.6%). The limits of agreement were clinically acceptable only for LVEDV. Finally, test-retest, intraobserver, and interobserver variability values were low (<12%)., Conclusions: HeartModel is feasible, reproducible, faster than manual 3DE, and comparable with manual 3DE for measurements of LV and left atrial volumes in children >5 years of age. However, compared with CMR, only LVEDV measured by automated 3DE with contour edit seems applicable for clinical practice., (Copyright © 2018 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.)

Background: Morphologic description of ventricular septal defect (VSD) is mandatory before performing the newly developed transcatheter closure procedure. Inaccurate estimation of defect size has been reported using conventional two-dimensional (2D) transthoracic echocardiography (TTE). The aim of this study was to assess VSD morphology and size using three-dimensional (3D) TTE compared with 2D TTE and surgery., Methods: Forty-eight children aged 21.4 ± 29.3 months with isolated muscular (n = 11 [22.9%]) and membranous (n = 37 [77.1%]) VSDs were prospectively included. Three-dimensional images were acquired using full-volume single-beat mode. Minimal diameter, maximal diameter, and systolic and diastolic VSD areas were measured from 3D data sets using multiplanar reconstruction mode (QLAB 9). Maximal-to-minimal VSD diameter ratio was used to assess VSD geometry. Linear regression analysis and the Bland-Altman method were used to compare 3D measurements with 2D and surgical measurements in a subgroup of 15 patients who underwent surgical VSD closure., Results: VSD 3D diameters and areas were measured in all patients (100%; 95% CI, 92.6%-100%). Maximal diameter was lower on 2D TTE compared with 3D TTE (7.3 vs 11.3 mm, P < .0001). Mean bias was 4 mm, with 95% of values ranging from -1.76 to 9.75 mm. Correlation between 3D maximal diameter and surgical diameter was strong (r(2) = 0.97, P < .0001), while correlation between maximal 2D diameter and surgical diameter was moderate (r(2) = 0.63, P < .0001). VSDs had an oval shape when assessed by 3D TTE. Maximal-to-minimal diameter ratio assessed by 3D TTE was significantly higher in muscular VSDs compared with membranous VSDs (3.20 ± 1.51 vs 2.13 ± 1.28, respectively, P = .01). VSD area variation throughout the cardiac cycle was 32% and was higher in muscular compared with membranous VSDs (49% vs 26%, P = .0001)., Conclusions: Three-dimensional TTE allows better VSD morphologic and maximal diameter assessment compared with 2D TTE. VSD shape and its changes during the cardiac cycle can be visually and quantitatively displayed. Three-dimensional echocardiography may thus be particularly useful before and during percutaneous VSD closure., (Copyright © 2016 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.)

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFβR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-β vasculopathy such as Loeys-Dietz syndrome., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Background: Accurate evaluation of the pulmonary valve (PV) is crucial before surgical repair of Tetralogy of Fallot (TOF)., Aims: To assess PV and pulmonary annulus (PA) morphology using three-dimensional (3D) transthoracic echocardiography (TTE) in infants referred for surgical repair of TOF. Also, to compare PA measurements obtained by 3D TTE with those from other imaging modalities, including two-dimensional (2D) TTE and computed tomography (CT), with reference to surgical measurements., Methods: 3D zoom mode was used to assess PV morphology. 2D TTE and CT PA diameters were compared to both vertical and horizontal diameters obtained from 3D datasets. Surgical PA diameters were measured using Hegar's dilators., Results: A total of 29 patients with TOF (median [range] age 6 [3-24] months) were included and all successfully underwent 2D and 3D TTE; 22 also underwent CT. The number of pulmonary leaflets could be visualized in 24 patients (82.8%), with complete concordance with surgical findings. Vertical diameter was significantly longer than horizontal diameter (P<0.001)-underlying PA eccentricity-and was more important in bicuspid than tricuspid valves. Correlations between 2D and 3D TTE diameters were good. Surgical diameter was better correlated with 2D and 3D diameters than with CT diameter. 3D minimum, 2D and CT diameters were significantly lower than surgical diameters, but 3D mean and maximum diameters were not., Conclusion: 3D TTE is accurate to assess PV morphology and PA size in patients with TOF. 2D TTE and CT underestimate PA diameter with reference to surgical diameter, however 3D mean and maximum diameters did not differ significantly., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Pulmonary arteriovenous fistulas are abnormal vessels joining the right pulmonary artery to the pulmonary veins. They lead to an extracardiac right-to-left shunt with refractory hypoxemia. We report the case of a 7-year-old girl with a large pulmonary arteriovenous fistula discovered with refractory hypoxemia diagnosed during general anesthesia for adenoidectomy. Radio-opacity was observed on the upper lobe of the right lung. The diagnosis was made using thoracic angiotomography. The proximal arterial vessel arose from the lobar pulmonary artery. The fistula had developed in the entire right upper lobe and drained into two veins flowing into the right superior pulmonary artery. Given the marked hypoxemia, the potential risks of pulmonary hemorrhage and pulmonary infection, an occlusion of the fistula was indicated. After discussion between surgeons and interventional cardiologists, catheterization was indicated. The occlusion of the fistula was successful at the second attempt after release of a vascular plug in the main proximal vessel. This case illustrates the clinical circumstances of diagnosis of arteriovenous fistula, the diagnostic algorithm for refractory hypoxemia and the therapeutic options, with discussion of the benefits and drawbacks of a catheterization procedure., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)