Annals of Pediatric Cardiology最新文献

Unilateral absence of pulmonary artery (UAPA) can be either isolated or associated with other congenital cardiac defects. It is a rare congenital lesion with a diverse clinical presentation. We present a case of absent right pulmonary artery and large patent ductus arteriosus (PDA) with severe unilateral pulmonary hypertension. We describe our strategy of staged ductus arteriosus closure in this patient and successful outcome on long term follow up.

Background: Individuals with Down syndrome (DS) have a 40%-60% chance of being born with congenital heart disease (CHD). This indicates that CHD in individuals with DS is not solely caused by trisomy 21, and there may be other genetic factors contributing to the development of CHD in these children. A study has identified variants in the specific genes that contribute to the pathogenesis of CHD in children with DS, isolated DS, and the CHD group. Computational studies on these identified variants, which, together with trisomy 21, determine the risk for CHD in DS cases, were limited. Here, we aimed to identify the impact of the identified variants that contribute to the pathogenesis of CHD in children with DS through in silico prediction, molecular modeling, and dynamics studies.

Methodology and results: The target single-nucleotide polymorphisms included in the study were examined for pathogenicity, residue conservation, and protein structural changes. The structural predictions were done using I-TASSER, Robetta, SWISS-MODEL, and Phyre2 tools. Further, the predicted models were validated through the PROCHECK server and molecular dynamics simulation using GROMACS software. The conservation analysis conducted on the identified variant highlights its significance in relation to the genetic disorders. Furthermore, a dynamics simulation study revealed the impact of the variant on protein structural stability (≤3 Å), providing valuable insights into its pathogenicity. We have also observed that the structure of the centrosomal protein of 290 kDa gene is relatively unstable, which may be attributed to its exclusive inclusion of helices within its secondary structural components.

Conclusions: This computational study explores, for the first time, the association between genes and CHD-DS, evaluating the identified specific frameshift variants. The observed pathogenic mutations in CHD-DS patients require further experimental validation and may contribute to the development of prospective drug design research. The insights gained from the structural and functional implications of these variants could potentially serve as a cornerstone in the development of effective treatments for this debilitating condition.

Coronary bifurcation lesions and treatment with two-stent techniques have been developed, including the double kissing (DK) crush technique. The use of this technique in children or noncoronary vessels, including pulmonary arteries, has not been described. We present a 12-year-old girl with Alagille syndrome, a ventricular septal defect (VSD), and complex bilateral pulmonary artery (PA) stenoses who is status post six catheterizations for PA angioplasty and stenting to improve her marked right ventricular hypertension. With collaboration between the congenital and structural teams, she successfully underwent the DK crush technique for a complex lesion in her PA. This improved pulmonary flow and allowed for successful surgical VSD closure.

Background: By rerouting the systemic venous return into the pulmonary circulation, the Fontan operation is perhaps the most effective palliative procedure in patients with complex congenital heart disease. The Fontan, however, still comes with several significant complications and morbidities, one of them being postoperative prolonged pleural effusion. In our center from 2017 to 2021, 10% of all our patients who underwent Fontan operation developed prolonged pleural effusion. With this study, we aimed to analyze the preoperative use of sildenafil for 6 months and its role in prolonged pleural effusion after the Fontan operation.

Materials and methods: In total, 158 patients were included in the analysis. The cohort was divided into patients who developed prolonged pleural effusion after Fontan surgery (n = 17) and those who did not (n = 141). We analyzed several risk factors and the history of sildenafil use in each group in the cohort. We found that patients who used sildenafil for at least 6 months prior to Fontan surgery versus those who did not use (n = 112 vs. n = 46) were found to be at lower risk of developing prolonged pleural effusion (odds ratio [OR]: 0.32 [confidence interval 95%: 0.11-0.88], P = 0.027).

Conclusion: Preoperative administration of sildenafil for at least 6 months before Fontan might reduce the risk of postoperative prolonged pleural effusion.

Background and aims: The pediatric cardiac intensive care unit (PCICU) frequently uses noninvasive ventilation (NIV). There are several reasons for its use, including prophylactic use right after the patient has been extubated. It is also used when patients are experiencing acute respiratory failure due to either cardiac or noncardiac reasons but are still able to maintain their airways. The objective of this study was to understand the spectrum of use of NIV following congenital cardiac surgery and analyze the outcome.

Methods and results: A retrospective observational study was conducted in a 14-bed PCICU, reviewing data from August 2019 to August 2022. Among 1750 congenital cardiac surgeries, 523 patients (29.9%) received NIV. The median age of the population was 2.5 months. Factors such as higher Risk-Adjusted Classification for Congenital Heart Surgery-1 category, longer intraoperative cardiopulmonary bypass time, and aortic cross-clamp time were associated with increased NIV use. Preoperative ventilator needs, infections, genetic syndromes, diaphragmatic paralysis, high vasoactive inotrope score (VIS) in the first 24 h, neonatal age, and weight <5 kg were independently associated with increased NIV need. The NIV group had a longer intensive care unit (ICU) stay compared to non-NIV patients. The success rate of NIV was 84%, with 440 successful cases and 83 failures. The mortality rate in the success and failure groups was not significantly different (5.27% vs. 6.0%).

Conclusions: NIV is widely used in PCICU, but it is associated with longer ICU stays. It proves beneficial after congenital cardiac surgery, especially for patients with specific risk factors. However, NIV may not directly impact mortality rates, suggesting that other factors contribute to patient survival.

Background: The value of prenatal identification of morphology of ductus arteriosus in fetuses with congenital heart defects (CHD) with pulmonary atresia and duct-dependent pulmonary circulation (DDPC) in planning neonatal ductal stenting procedure is untested. The aim of the study is to analyze the utility of three-dimensional/four-dimensional (3D/4D) spatiotemporal image correlation (STIC) fetal echocardiography in delineating the morphology of ductus arteriosus in fetuses with DDPC undergoing neonatal ductal stenting.

Methods: In this retrospective study (2017-22), prenatal imaging of pulmonary artery (PA) anatomy, aortic arch sidedness, and morphology of ductus arteriosus (ductal origin was classified as vertical/horizontal and ductal course as tortuous/straight) was done using 3D/4D STIC imaging and volume datasets. Prenatal findings were correlated with angiographic findings during stenting and the degree of agreement was calculated.

Results: We included 27 fetuses with a prenatal diagnosis of CHD with DDPC who underwent neonatal ductal stenting. The accuracy of prenatal assessment of PA anatomy, branch PA stenosis, and arch sidedness was 100%, 92.6%, and 88.9%, respectively. The accuracy of prenatal assessment of ductal origin and course, compared with angiography, was 85.2% and 88.9%, respectively. Prenatal imaging had a diagnostic accuracy of 100% for vertical straight and horizontal tortuous ducts, 84.6% for vertical tortuous, and 67% for horizontal straight ducts. Duct stenting was successful in 25 (92.6%) babies; two died after the procedure from stent occlusion.

Conclusion: Fetal echocardiography using 3D/4D STIC imaging enables accurate delineation of the morphology of ductus arteriosus in fetuses with DDPC, thereby aiding parental counseling and planning neonatal ductal stenting.

Large vessel stenosis is currently successfully treated with percutaneous stent implantation. Zephyr stent is a cobalt-chromium peripheral stent specifically designed for large-vessel stenting. Its specific "S-" and "C-" shaped flexible polylinks prevent stent foreshortening and recoil. We report our experience of using Zephyr among the pediatric population and their medium-term outcome. The study included a total of 19 patients treated with 21 Zephyr stents. The indications for stenting included coarctation of the aorta (four patients), stenosed pulmonary artery (eight patients), stenosed right ventricular outflow tract (five patients) or conduit (one patient), and percutaneous Fontan (one patient). All the procedures were successful. None of the patients showed any stent-related complications. Stent fractures, foreshortening, or recoil were not seen during follow-up. Our medium-term (1-20 months) follow-up showed a favorable outcome. One patient developed restenosis. Zephyr stent is a good therapeutic option for large-vessel stenting. However, it needs large-scale studies for further confirmation.

Background: Transcatheter patent ductus arteriosus (PDA) closure with unusual morphology associated with multiple constrictions or unusual circumstances such as interruption of inferior vena cava (IVC) is still challenging. This study evaluates the use of KONAR-MF™ (Lifetech Scientific Co Ltd., Shenzhen) for transcatheter closure of PDA in such situations.

Materials and methods and results: Between January 2021 and October 2021, 24 patients from three different tertiary care centers underwent PDA device closure using the KONAR-MF™ device and are included in the study. Patient demographics, echocardiographic assessment, procedural details including the approach, device details, complications, and follow-up data were recorded. The median age and weight of the cohort were 2 years (0.5-41) and 10 kg (5-98), respectively. The indications for using KONAR-MF™ were (a) unusual morphology of PDA in 14, long tubular PDA in 8, and long tubular with multiple constrictions in 6 patients and (b) unusual circumstances such as interrupted IVC in 6 and inability to cross PDA antegradely in 4 due to dilated main pulmonary artery. The procedure was successful in all the patients and no procedure-related complications were noted in this cohort. Median follow-up of 9 months (range: 5-18) showed no residual shunt and only one patient had flow acceleration across the left pulmonary artery (peak Doppler gradient 16 mmHg).

Conclusions: KONAR-MF™ device can be used safely and effectively for transcatheter closure of PDA with unusual anatomy or in unusual circumstances.

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1^st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.