Transcatheter closure of patent ductus arteriosus in preterm infants: results from a single-center cohort.

Objective: To assess the success rate of patent ductus arteriosus (PDA) transcatheter closure in preterm infants and to describe the nature of procedural adverse events and short-term clinical status. Study design: All the preterm infants with PDA transcatheter closure were evaluated retrospectively between July 2019 and March 2023 in a single level III neonatal intensive care unit in France. The procedure was performed in the catheterization laboratory using venous canulation. We retrospectively collected data about the patients' characteristics, procedural outcomes and complications. Results: Twenty-five infants born between 23.4 and 32.0 weeks of gestational age (mean ± SD 26.3 ± 1.9 weeks) underwent transcatheter PDA closure. Their mean age and weight at the time of the procedure were 52 days (range 22-146 days) and 1,620 g (range 890-3,700 g), respectively. Successful closure was achieved in all but one patient. Procedure related complications were reported in 10 infants (40%), including 6 left pulmonary artery stenosis one of which required a balloon dilatation, two cardiac tamponades and two inferior vena cava thrombosis. Only two post-ligature syndromes occurred after the procedure. Two infants died one of which was related to the procedure. Conclusion: Transcatheter closure of a PDA is a valid alternative to surgical ligation due to its high success rate and low incidence of post-ligature syndrome. Nevertheless, we also report rare, although serious complications.

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

BACKGROUND AND OBJECTIVE: Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present a detailed molecular investigation of a cohort of 231 patients presenting with primary cardiomyopathy below the age of 18 years. METHODS: Cases with pediatric cardiomyopathies were analyzed using a next-generation sequencing (NGS) workflow based on a virtual panel including 57 cardiomyopathy-related genes. RESULTS: This molecular approach led to the identification of 69 cases (29.9% of the cohort) genotyped as a carrier of at least one pathogenic or likely pathogenic variant. Fourteen patients were carriers of two mutated alleles (homozygous or compound heterozygous) on the same cardiomyopathy-related gene, explaining the severe clinical disease with early-onset cardiomyopathy. Homozygous TNNI3 pathogenic variants were detected for five unrelated neonates (2.2% of the cohort), with four of them carrying the same truncating variant, i.e. p.Arg69Alafs*8. CONCLUSIONS: Our study confirmed the importance of genetic testing in pediatric cardiomyopathies. Discovery of novel pathogenic variations is crucial for clinical management of affected families, as a positive genetic result might be used by a prospective parent for prenatal genetic testing or in the process of pre-implantation genetic diagnosis.

Value of preoperative echocardiography for the diagnosis of coronary artery patterns in neonates with transposition of the great arteries.

BACKGROUND: Abnormal coronary pattern may complicate coronary transfer during arterial switch operation. OBJECTIVE: To evaluate the accuracy of echocardiography in assessing the anatomy of coronary arteries in neonates with transposition of the great arteries, and determine impact on outcomes. METHODS: We conducted a retrospective analysis of data in neonates with transposition of the great arteries. Preoperative echocardiographic coronary artery pattern and surgical intraoperative reports were compared. Mismatch between transthoracic echocardiography and surgical intraoperative reports and the impact on perioperative outcome were assessed. Coronary patterns were classified into four groups: type 1 (normal); type 2 (risk of coronary with intramural course); type 3 (coronary loop); and type 2+3. RESULTS: Overall, 108 neonates who underwent an arterial switch operation were included: 68 were classified as type 1; seven as type 2; 32 as type 3; and one as type 2+3. Overall, 10 adverse events occurred. Five patients died, three from coronary causes. Survival was 96% at 1 month. Transthoracic echocardiography and surgical intraoperative reports differed in 17.6% of cases. Mortality was 15.8% in case of inappropriate diagnosis and 2.2% for appropriate diagnosis (P=0.01). Mortality in type 2 was 66.7% in case of discordance versus 0% when concordant. Multivariable analysis found that inappropriate preoperative transthoracic echocardiography diagnosis of coronary pattern was the only significant risk factor for mortality (P=0.04). CONCLUSIONS: Echocardiography can assess coronary artery anatomy in neonates with transposition of the great arteries. Intramural coronary course is often misdiagnosed. Preoperative misdiagnosis of coronary artery anomaly may impact perioperative mortality. However, this assessment will have to be confirmed by further larger studies.

Outcomes of Newborns with Prenatal Ventricular Asymmetry not Requiring Neonatal Surgical Intervention: a 22-Year Retrospective Single-Center Study.

To assess the outcomes of neonates prenatally diagnosed with ventricular asymmetry and not operated on within the neonatal period and to determine the risk factors for left heart obstruction occurrence at follow-up. All neonates with prenatal asymmetry of the ventricles, diagnosed from August 1993 to July 2015, not operated on within the neonatal period, were retrospectively included in the study. Left heart echocardiographic measurements at birth and at last follow-up were collected and compared. Left heart anomaly included isthmus and/or aortic valve and/or mitral valve obstruction. There were a total of 34 newborns included in the study. The median follow-up was 2 years. There was no death. Eleven patients were operated on at a median age of three months; seven of them had an obstruction of the left heart (five coarctations of the aorta, one sub-aortic and aortic valve stenosis, and one mitral stenosis). Estimated freedom of left heart surgery was 80% at 6 months and 75% at 10 years. The main risk factor for progression to a left heart anomaly was a hypoplasia of the aortic isthmus (p = 0.0003), while the presence of a left superior vena cava was more frequent in these patients although the difference was not significant. Patients with an aortic isthmus z-score below - 2 at the closure of arterial duct are at risk of later coarctation and therefore follow-up should be extended to at least 3 months. Furthermore, the prenatal ventricular asymmetry does not only identify patients at risk of coarctation but also of other left heart anomalies. This last point should be a better approach with future parents to improve prenatal counseling on a more complex postnatal diagnostic than a simple isolated coarctation.

[Online hemodiafiltration in children and hypoparathyroidism: a single-centre series of cases]. / Hémodiafiltration online et hypoparathyroïdie chez l'enfant : une série de cas monocentrique.

BACKGROUND: Due to technical requirements and cost, hemodiafiltration (HDF) is not widely used in pediatrics. We have been using online HDF (oHDF) since 2009 and we observed low parathyroid hormone (PTH) levels despite the accurate management of CKD-MBD. METHODS: We reviewed the medical charts and parameters of mineral metabolism assessed on a before/after session basis in the 6 children undergoing chronic oHDF in our centre. RESULTS: We observed low (<80pg/mL) PTH levels in all 6 patients and very low (<45pg/mL) PTH levels in 5, two of them presenting with pathological fractures. These low PTH levels were reversed after decreasing calcium concentration to 1.25 mmol/L in the dialysate, suggesting that high-efficiency oHDF may expose children to calcium during sessions in a too important amount when using 1.5 mmol/L dialysates. Last, C-terminal FGF23 levels before sessions were relatively low (<1600RU/mL), with a 32% clearance by oHDF. CONCLUSION: PTH levels should be closely monitored in pediatric oHDF and solutions with a calcium concentration of 1.25 mmol/L should be used as first line in these patients.