Congenital Stenosis Research Articles

Innovative regenerative therapy for refractory postoperative esophageal anastomotic stenosis in children

Autologous oral mucosa-derived epithelial cell sheet transplantation was devised as a new treatment for refractory postoperative anastomotic stenosis in patients with congenital esophageal atresia (CEA) and congenital esophageal stenosis (CES). Transplantation therapy was performed on three patients with refractory postoperative anastomotic stenosis who had undergone endoscopic balloon dilatation (EBD) at least twice in one year and at least five times in total. Epithelial cell sheets were prepared from the patients' oral mucosa and transplanted over the esophageal wounds caused by EBD using a specially developed transplantation device. After transplantation, the patients were followed for 48 weeks. Subject 1 underwent two transplantations and showed temporary improvement in stenosis, but required periodic EBD and eventually had the stenotic area removed. Subject 2 did not require EBD for more than two years post-transplantation; Subject 3, until one year after transplantation. Both Subject 2 and Subject 3 experienced improvement in the passage of food and drink and were able to consume a regular diet as opposed to a full liquid diet. These results suggest that cell sheet transplantation therapy is effective in some cases.Trial registration: UMIN, UMIN000034566, registered 19 October 2018, https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000039393.

Congenital Mitral Stenosis: A Rare Case Report and Review of Literature

Congenital mitral valve stenosis is a rare and severe disease, usually associated with other heart defects. The appropriate intervention depends on the site and mechanism of valvular obstruction and the aim is to avoid or delay valve replacement since it is associated with significant morbidity and mortality. We report a case of a 2-month male infant with a typical, severe mitral valve stenosis, mild bicuspid aortic valve stenosis, small patent foramen ovale, severe pulmonary hypertension with florid pulmonary edema. Keywords: Congenital Mitral Stenosis, Bicuspid Aortic Valve Stenosis, Severe Pulmonary Hypertension, Patent Foramen Ovale, Transthoracic Echocardiography.

Diagnosis and treatment of congenital stenosis of external auditory canal with external auditory canal cholesteatoma complicated with exudative effusion in the middle ear and mastoid process

Background The optimal timing for surgery to promote postoperative recovery in children with congenital stenosis of the external auditory canal with external auditory canal cholesteatoma, who are susceptible to exudative inflammation of middle ear and mastoid process, is still uncertain. Objectives To investigate the treatment of congenital stenosis of external auditory canal with external auditory canal cholesteatoma complicated with exudative inflammation. Material and Methods A retrospective analysis of 45 patients with congenital stenosis of external auditory canal with external auditory canal cholesteatoma complicated with mastoiditis. Based on whether effusion had resolved at the time of surgery, the patients were divided into two groups. Pure-tone audiometry tests were performed before and after surgery for both groups. Results The average postoperative duration of dry ear was 36.38 days in Group 1 and 47.90 days in Group 2 (p < 0.05). Among patients who underwent hearing reconstruction, the average air conduction threshold decreased by 15–36 dBHL in Group 1 and by 7–22 dBHL in Group 2 (p < 0.05). Conclusions and significance The postoperative outcomes of dry ear and hearing improvement can be enhanced by performing operation after effusion resolution in cases of congenital external auditory canal stenosis with external auditory canal cholesteatoma exudative inflammation.

Hoffman Sign

The Hoffmann sign or reflex is commonly taught as part of the physical examination to detect abstract upper motor neuron pathology. We present a case of a patient with congenital spinal stenosis and a fall who had a positive Hoffmann sign as the result of a central cord syndrome. The materials contain a video of this physical exam finding and briefly review its history, reliability and clinical utility.

Congenital bronchial stenosis: a case report of an unusual diagnosis and its management

Congenital bronchial stenosis: a case report of an unusual diagnosis and its management

Abstract 15800: Evaluating the Correlation Between Right Ventricular Outflow Tract Dimensions and Arrhythmia Risk Following Self-Expanding Transcatheter Pulmonary Valve Replacement

Introduction: The introduction of self-expanding valves has allowed for an expanded range of patients who can be treated with transcutaneous pulmonary valve replacement (TPVR). Though major complications are rare, ventricular tachycardia has been reported following self-expanding valve placement prompting investigation of potential risk factors. Hypothesis: Significant variation in valve dimensions within the right ventricular outflow tract (RVOT) throughout the cardiac cycle is postulated as a cause for increased arrhythmia risk. We hypothesized that greater dynamic variation of the valve in the RVOT correlates to higher ventricular arrythmia risk. Methods: A single center review was performed of patients who underwent TPVR with either Harmony TPV or Alterra Pre-stent with subsequent placement of 29mm Sapien valve between 2019 and 2023. Using post-procedural 3D rotational angiography, minimum (systole) and maximum (diastole) diameters (mm), perimeter (mm) and cross-sectional area (mm 2 ) of the valve frame were measured in two locations: closest to the branch pulmonary artery bifurcation and the RV cavity. Results: Twenty-eight patients were included (14 Harmony TPV, 14 Alterra). Higher frequency of ventricular arrythmia was seen in patients with congenital pulmonary stenosis ( p =0.004). Higher ventricular arrythmia rate was associated with larger diastolic diameter (34.1 vs 33.2mm, p =0.04), mean perimeter (118.3 vs 108.6mm, p =0.03) and area (1124.5 vs 926.2mm 2 , p =0.03) of the valve frame closest to the RV cavity. Conclusions: Increased movement of the valve frame close to the RV cavity may correlate with a higher ventricular arrythmia risk due to increased contact with the native RVOT throughout the cardiac cycle. Future studies should focus on more accurate, mathematical methodology to better understand whether the complex interaction between self-expanding valves and the native RVOT is a determinant for post-procedural ventricular arrythmia.

Abstract 13652: Machine Learning Prediction of RV End-Diastolic Volume in Patients With Pulmonary Regurgitation

Introduction: RV end-diastolic volume (RVEDV) by cardiac MRI (cMRI) guides intervention in congenital heart disease. Guideline directed linear and area measurements from two-dimensional echocardiography (2DE) have poor univariable linear correlation with RVEDV. We hypothesized that non-linear modeling of 2DE RV measurements may predict cMRI volume. Aims: We sought to develop a prediction algorithm for RVEDV from guideline-directed RV 2DE measurements. Methods: Patients from 2009 to 2022 with &gt; mild pulmonary regurgitation and cMRI +/- 3 months were included. 2DE measurements were: RV end-diastolic (RVED) apical 4-chamber area, basal RVED diameter (d), mid RVED d, tricuspid annulus d, RVED length; PSLAX proximal RVOT d; PSSAX proximal RVOT d, distal RVOT d. A gradient-boosting decision trees algorithm (XGBoost) regressed cMRI RVEDV (mL) using 2DE inputs (including missing data) with leave-one-out crossvalidation. Predicted RVEDV was BSA-indexed to examine performance at clinical threshold 150 mL/m 2 . Intraclass correlation coefficient (ICC) in 30 samples was measured. Results: Of 243 subjects (median age 21 [IQR 16-31] y, 58% tetralogy of Fallot, 22% congenital pulmonary stenosis s/p intervention), 19% had cMRI RVEDV &gt; 150 mL/m 2 . Missing ranged from 5% (basal RVED d) to 17% (PSSA proximal RVOT), and ICC ranged from 0.46 (basal RVED d) to 0.78 (tricuspid annulus). Mean absolute error was 40 mL (27 mL/m 2 ). At the predicted threshold 150 mL/m 2 had 39% sensitivity, 87% specificity, 40% positive predictive value, and 86% negative predictive value for true RV dilation. Conclusion: Prediction of RVEDV from guideline recommended 2DE RV measurements is possible. Detection of clinically significant RV dilation has low sensitivity but may be helpful in ruling out cases. Sources of error include interrater variability and missing data due to poor visualization of the RV on 2DE. Future work to develop a consistent and informative feature set for modeling is required.

Is the type and/or co-existence of degenerative spinal pathology associated with the occurrence of degenerative cervical myelopathy? A single centre retrospective analysis of individuals with MRI defined cervical cord compression

BackgroundDegenerative cervical myelopathy (DCM) arises from spinal degenerative changes injuring the cervical spinal cord. Most cord compression is incidental, referred to as asymptomatic spinal cord compression (ASCC). How and why ASCC differs from DCM is poorly understood. In this paper, we study a local cohort to identify specific types and groups of degenerative pathology more likely associated with DCM than ASCC. MethodsThis study was a retrospective cohort analysis (IRB Approval ID: PRN10455). The frequency of degenerative findings between those with ASCC and DCM patients were compared using network analysis, hierarchical clustering, and comparison to existing literature to identify potential subgroups in a local cohort (N = 155) with MRI-defined cervical spinal cord compression. Quantitative measures of spinal cord compression (MSCC and MCC) were used to confirm their relevance. ResultsELF (8.7 %, 95 % CI 3.8–13.6 % vs 35.7 %, 95 % CI 27.4–44.0 %) Congenital Stenosis (3.9 %, 95 % CI 0.6–7.3 % vs 25.0 %, 95 % CI 17.5–32.5 %), and OPLL (0.0 %, 95 % CI 0.0–0.0 % vs 3.6 %, 95 % CI 0.3–6.8 %) were more likely in patients with DCM. Comparative network analysis indicated loss of lordosis was associated with ASCC, whilst ELF with DCM. Hierarchical Cluster Analysis indicated four sub-groups: multi-level disc disease with ELF, single-level disc disease without loss of lordosis and OPLL with DCM, and single-level disc disease with loss of lordosis with ASCC. Quantitative measures of cord compression were higher in groups associated with DCM, but similar in patients with single-level disc disease and loss of lordosis. ConclusionsThis study identified four subgroups based on degenerative pathology requiring further investigation.

Pilot Study on the Molecular Pathogenesis of Pyeloureteral Junction Obstruction: Underdevelopment or Fibrosis?

Background and Objectives: Congenital ureteral stenosis is one of the leading causes of impaired urinary drainage and subsequent dilatation of the urinary collecting system, known as hydronephrosis or ureterohydronephrosis. The mechanism that leads to obstruction is not clearly known. Multiple studies in rat models have shown increased angiotensin II and TGFβ levels in obstructed ureteral tissue. The aim of the study is to investigate the expression of fibrosis-related genes in obstructive and normal ureteral tissue. Material and Methods: It is a monocentric pilot study in which nineteen patients were selected prospectively. 17 patients underwent Hynes-Anderson pyeloplasty due to the PUJO; two patients underwent ureteroneocystostomy due to ureterovesical junction obstruction (UVJO); and six patients were chosen for the control group: five underwent nephrectomies due to the kidney tumor and one underwent upper pole heminephrectomy due to the duplex kidney with normal pyeloureteric junctions in all. Tissue RNA was chemically extracted after freezing the biopsy samples in liquid nitrogen, with cDNA synthesis performed immediately after nucleic acid isolation. qPCR was performed to evaluate the relative expression of Tgfb1, Mmp1, Timp1, Pai1, Ctgf, and Vegfa. Expression levels of the Gapdh and Gpi genes (geometric average) were used to calculate the relative expression of the investigated genes. Outliers were removed prior to calculating confidence intervals for the experimental groups, and a Wilcoxon rank-sum test was performed to determine the statistical significance of the differences. Results: Significant differences between healthy and stenotic tissue samples in Ctgf gene expression levels were observed, with the samples from afflicted tissue showing lower expression. No statistical difference in expression levels of Tgfb1, Timp1, Vegfa, Mmp1, and Pai1 was found. Conclusions: These findings suggest that tissue fibrosis, similar to other tissues and organs, is not the leading cause of stenosis, at least at the moment of surgery. Decreased CTGF expression is indicative of the developmental origin of obstruction.

Current and Expanded Indications for Cervical Disc Arthroplasty: Beyond the FDA IDE Studies.

The widespread success of cervical disc arthroplasty (CDA) has led to an interest in expanding indications beyond those outlined in the initial Food and Drug Administration investigational device exemption studies. Some of these off-label indications currently include 3-level and 4-level CDA, hybrid constructs with adjacent segment anterior cervical discectomy and fusion or corpectomy constructs, pre-existing kyphosis, revision of a failed anterior cervical discectomy and fusion to a CDA, CDA in the setting of significant degenerative disc disease and/or facet joint arthropathy, CDA for congenital cervical stenosis, and CDA in the presence of ossification of the posterior longitudinal ligament. This review article will summarize the current literature pertaining to the aforementioned indications.

A Case Report on Congenital Nasal Pyriform Aperture Stenosis

Introduction: Congenital nasal pyriform aperture stenosis is a rare cause of neonatal respiratory distress.&#x0D; Observation: A female neonate was born by cesarean section at 39 SA for hydramnios, triple scarred uterus and macrosomia. He was macrosomic and had no facial dysmorphia, he presented at H1 of life with respiratory distress and noisy mouth breathing. He cyanosed with each feeding attempt. On facial CT, the choanae were patent with a median central incisor and piriformis orifice stenosis. Nasal breathing gradually normalized. The hospitalization lasted 8 days with a good evolution.&#x0D; Discussion: Congenital piriformis stenosis is a rare cause of congenital nasal obstruction. The association with median incisor syndrome is not exceptional. Diagnosis must be made early for proper management. Cyanosis and false airway can be life threatening. Associated abnormalities should be investigated by CT and MRI. Treatment is variable and may be surgical if the stenosis is severe. The prognosis is good in the absence of severe malformations or associated mental retardation.&#x0D; Conclusion: In case of neonatal respiratory distress, the Congenital pyriformis stenosis must be among the causes, a rapid diagnostic assessment and management are necessary.

Management of a rare isolated left main coronary artery ostial stenosis in a young patient: a case report

BackgroundIsolated congenital ostial stenosis of the left coronary artery (LCA) is extremely rare, and available literature is limited. Long-term treatment success is key in the choice of treatment strategy due to the mostly young age of the patients. Here, we present a clinical case and shed light on the surgical treatment strategies including their pitfalls.Case presentationWe describe a 20-year-old male who presented to the emergency department with recurrent typical angina pectoris symptoms (CCS class II). Computed tomography and coronary angiography revealed isolated ostial stenosis of the LCA, with prominent collaterals from the right coronary artery. The patient was operated on and intra-operative findings showed a severely narrowed LCA ostium that appeared to be fibrotic, and to originate from a similarly fibrotic left coronary sinus of the aortic root. The LCA was excised from the left coronary sinus, and trimmed until the coronary artery lumen appeared macroscopically normal. The fibrotic left coronary sinus was resected and replaced with a bovine pericardial patch, into which the coronary artery was re-inserted. During weaning from cardiopulmonary bypass, we faced a diminished left ventricular function. We attributed this to insufficient myocardial protection. Isolated antegrade cardioplegia had been used, which, for technical reasons, had to be administered separately to the right and left coronary artery after aortotomy. In the setting of huge collaterals from the right to the left coronary artery, a steal-effect likely occurred. After prolonged reperfusion, the left ventricular function recovered, and the further post-operative course was unremarkable.ConclusionsFor the surgical treatment of congenital ostial stenosis of the LCA, both ostium reconstruction and coronary artery bypass grafting have been described. The advantage of ostium reconstruction as chosen here is to create a physiological flow and supply situation to the affected myocardial areas. Furthermore, in case of other downstream events, such as the development of coronary artery disease, all further therapeutic options are preserved.Special attention should be paid to the administration of cardioplegia in these patients. Combined ante and retrograde cardioplegia administration probably would have achieved more extensive myocardial protection in our case.

Peroral endoscopic myotomy for a pediatric case of suspected congenital esophageal stenosis

Video 1Peroral endoscopic myotomy for a pediatric case of suspected congenital esophageal stenosis.

Multiple congenital esophageal strictures masquerading as gastroesophageal reflux disease in an infant: a case report

Congenital esophageal stenosis (CES) is a rare congenital disorder, generally presenting as vague complaints of dysphagia, vomiting and frequent respiratory complaints with symptoms usually appearing with introduction of complimentary feeding. We present the case of an eight-month-old male infant, presenting with regurgitation of feeds, recurrent episodes of cough and poor weight gain. He was diagnosed as a case of isolated multiple membranous esophageal strictures and underwent serial endoscopic esophageal dilatations which subsequently allowed him to swallow solid food and achieve good weight gain.

Congenital Cervical Stenosis: a Review of the Current Literature.

Congenital cervical stenosis (CCS) is a phenomenon in which an individual has a narrow canal due to abnormal anatomy which can present with earlier degenerative symptoms due to a reduced sagittal diameter. The diagnosis of CCS is important to individual treatment and preventative measures. Often, athletes are warned against sport participation that may cause damage to the cervical spine. There may be a predisposition in certain populations, but lack of data limits conclusions. The current review investigates recent literature on the definition, pathoanatomy, clinical presentation, and management of CCS. It specifically interrogates potential populations predisposed to this condition. The current literature reveals a potential predisposition for CCS in the black population when compared to the white population; however, many studies do not report race when discussing CCS patients. The lack of data limits a consensus on specific populations with a congenitally narrow canal. CCS may be more prevalent in specific populations. With knowledge of populations more at risk for this condition, physicians and teams can be alert when evaluating players and young adults. Furthermore, this may provide insight into risk for symptoms with degenerative disease. These findings introduce an avenue for further research into CCS.

Pediatric cholesteatoma associated with congenital aural atresia and stenosis

ObjectiveInvestigate presenting features, associated surgical treatment, and outcomes in patients with cholesteatoma associated with congenital aural atresia (CAA) or stenosis (CAS). MethodsColorado Multiple Institution Review Board approval was obtained. A retrospective chart review was performed at a single tertiary care children's hospital of all pediatric patients with congenital aural atresia or stenosis with associated cholesteatoma from January 1, 2003, to October 15, 2018. ResultsOf the 278 patients identified with CAA or CAS, twelve (4.3 %) were found to have a canal cholesteatoma. There was a male predominance (8:4). Nine patients (75 %) had conductive loss and three (25 %) had mixed loss. Four patients (33.3 %) exhibited canal cholesteatomas extending into the middle ear or mastoid cavity. All patients underwent surgery, and 25 % of patients required revision canalplasty while 58 % of patients required revision surgery for cholesteatoma recidivism. The average age at the time of surgery was 11.3 ± 3.7 years. ConclusionFewer than 5 % of pediatric patients with congenital aural atresia or stenosis were diagnosed with an acquired canal cholesteatoma. The need for revision surgery was common, occurring in >50 % of cases. Screening patients with CAA/CAS for cholesteatoma with imaging is recommended to avoid the morbidity of delayed identification.

A Study of Ventriculoperitoneal Shunt in Management of Pediatric Hydrocephalus

Background: Hydrocephalus is one of the most common clinical conditions affecting the central nervous system and Ventriculoperitoneal (VP) shunt is the most common procedure used. We report an outcome analysis of various risk factors and etiological factors for shunt failure in pediatric patients from a single institution. Methods: A single institutional cross-sectional observational study was conducted in 45 operated cases of hydrocephalus below 16 years of age from 2020 to 2022. Etiology, various risk factors, surgery time, cerebrospinal fluid (CSF) analysis and shunt complications were the parameters analysed. The association of parameters was analysed using the Chi-square test and binary logistic regression. Results: Forty-five patients who fulfilled the inclusion criteria were enrolled in the study. About 57.8% of patients were male, and the mean age of patients at the time of VP shunt was six months. The majority of the patients belonged to 0-1 years of age with 68.9%. The commonest etiology of hydrocephalus was congenital aqueduct stenosis (42.22%). Overall shunt complication was found in 20% of patients. Chi-Square analysis revealed emergency surgery (p = 0.01) compared to elective surgery, long duration of surgery (≥ 1 hour; p = 0.01) compared to short duration of surgery (&lt; 1 hour), and increased protein content in CSF analysis (p = 0.001) were the significantly associated with shunt failure. But only increased CSF analysis (p = 0.04) was found to be significant predictor of shunt complication when adjusted with other significant variables in binary logistic regression. Conclusion: Emergency surgery, long duration of surgery, and increase protein content in CSF analysis were found to be associated with shunt complications and protein CSF was found to be significant predictor of shunt failure after adjusting with other variables.

Combining Laminoplasty With Artificial Disc Replacement for the Treatment of Cervical Spondylotic Myelopathy With Congenital Cervical Stenosis.

Cervical spondylotic myelopathy (CSM) is a very common and devastating spinal disease. Congenital cervical stenosis (CCS) is the most common cause. We aimed to elucidate the security, effectivity, and feasibility of surgery combining laminoplasty with artificial disc replacement (ADR) to treat CSM patients with radiculopathy, especially for preserving the range of motion (ROM) of the cervical spine. Between August 2008 and April 2019, 39 patients with multiple CSM caused by CCS were enrolled in the present study. All patients received laminoplasty first and then ADR. We used a retrospective collection of data for evaluating the functional and radiologic outcomes, especially regarding preservation of ROM. Each patient underwent at least a 2-year postoperative follow-up. The Japanese Orthopedic Association score showed great improvements at 6 months. The ADR index-level ROM was preserved during follow-up. The subaxial Cobb angle could also be retained in the whole cervical spine, and the spinal canal diameter could be expanded by more than 52.6%. There were no severe complications or side effects, and no patients needed secondary surgery. We aimed to treat multiple levels of CSM with adequate decompression without too many intervertebral disc replacements. We were able to expand the spinal canal directly for these patients with CCS and needed only 1- or 2-level ADR to treat them with associated radiculopathy. This combined surgical strategy was secure, effective, and was able to preserve the ROM of the cervical spine.

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

BackgroundThe genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in human fetuses.MethodsA retrospective analysis was performed on 84 fetuses with congenital PS in southern China. Fetal amniotic fluid and umbilical cord blood samples were obtained for chromosomal karyotype analysis and CMA.ResultsThe rate of pathogenic copy number variation (CNV) was 15.5% (13/84) after karyotyping and CMA. An abnormal karyotype was detected in five cases (6.0%, 5/84) via karyotyping, whereas pathogenic CNVs were detected in 13 cases (15.5%, 13/84) via CMA. In addition to the five abnormal karyotypes detected using karyotype analysis, eight additional chromosomal microduplications and microdeletions were detected using CMA, comprising three cases of 22q11.21 microdeletion; two cases of 16p11.2 microdeletion; one case of simultaneous 18q23 microdeletion and 22q13.33 microduplication; one case of 15q24.1q24.2 microdeletion; and one case of 1q21.1q21.2 microduplication. The rate of pathogenic CNV occurrence was 11.5% in fetuses with isolated PS and 17.2% in fetuses with PS combined with other ultrasound abnormalities. This difference between the two experimental groups was statistically significant. Among 84 fetuses with PS, 39 pregnancies were terminated, and five were lost to follow-up.ConclusionsCMA was not only conducive to detect PS-related pathogenic genomic abnormalities but also to accurately evaluate fetal prognosis in genetic counseling. The early detection of PS and genomic abnormalities will exerta positive impact on fetal intervention and the related prognosis of PS in perinatal infants.

Safe and secure laparoscopy-assisted jejunostomy tube placement using a percutaneous loop needle device in an infant.

We, herein, report a surgical technique for laparoscopy-assisted jejunostomy tube placement in an infant using a loop needle device to fix the jejunum and abdominal wall. A 3-year-old boy with Down's syndrome underwent nutritional management by gastrostomy due to oral feeding difficulty after radical surgery for congenital duodenal stenosis and following bile duct stenosis. However, intractable gastrostomy site leakage emerged; hence, laparoscopy-assisted gastrostomy takedown and simultaneous laparoscopy-assisted jejunostomy tube placement were planned. After laparoscopy-assisted gastrostomy closure was performed, the jejunum was extracted through the umbilical trocar wound. A jejunostomy tube kit was inserted at the left side of the umbilicus. After tube insertion into the jejunum, the jejunostomy tube was wrapped with four interrupted sutures using the Witzel technique. Suture threads were extracted by percutaneous insertion of a loop needle device, and then, the jejunum was fixed to the abdominal wall. The post-operative course was uneventful. Percutaneous insertion of a loop needle device is useful for fixing a jejunostomy tube to the abdominal wall using the Witzel technique. Our technique is safe, secure and expected to reduce the risk of dislodgement of tube and peritonitis associated with jejunostomy tube placement.