Reconstructive Surgery of the Laryngotracheal Junction. / Rekonstruktive Chirurgie des laryngo-trachealen Übergangs.

The laryngotracheal junction is an anatomical region with special pathophysiological features. This review presents clinical pictures and malformations that manifest pre-dilectively at this localisation in children and adolescents as well as in adults. The diagnostic procedure is discussed. The possibilities of surgical reconstruction are presented depending on the pathology and age of the patient.

Slide tracheoplasty for congenital tracheal stenosis with involvement of the carina and bronchi: a case report.

A female newborn presented with respiratory distress at birth and was diagnosed with congenital tracheal stenosis. The stenosis was positioned at the distal trachea and compromised the carina and the right and left bronchi. She underwent surgical treatment using circulatory life support with veno-arterial peripheral extracorporeal membrane oxygenation, and the airway was reconstructed using the slide tracheoplasty technique to build a neocarina. The patient had an excellent postoperative course, was successfully weaned from extracorporeal membrane oxygenation and invasive ventilation, and was discharged.

VACTERL Association in Patients With Metopic Synostosis: Is There a Link?

VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified.

Rare type of tracheal agenesis: Unexpected presentation and immediate consideration of emergent esophageal intubation in neonatal resuscitation program. Case reports and review of the literature.

BACKGROUND: Tracheal agenesis, or tracheal atresia, is a rare congenital anomaly. The presence of a tracheoesophageal fistula (TEF) can help with breathing for newborns with tracheal agenesis. In this article, we presented three unique cases and outcomes of neonates with tracheal agenesis along with a review of the literature. METHODS: This study consisted of a single center case series followed by a review of literature. Case reports were generated using both written and electronic medical records from a single hospital. We summarized three unique cases and outcomes of neonates with tracheal agenesis and performed a review of the literature. RESULTS: We identified three cases of tracheal agenesis presented with severe cyanosis without spontaneous crying upon birth. Experienced pediatricians attempted to intubate the babies but were unsuccessful. Endotracheal tubes were subsequently either accidentally or purposely placed into the esophagus, and oxygen saturation levels improved. This suggested tracheal agenesis with TEF. Two cases underwent surgical intervention after resuscitation with esophageal intubation. CONCLUSION: Esophageal intubation may be a life-sustaining ventilation support for patients with tracheal agenesis and TEF at initial resuscitation. Clinicians should suspect tracheal agenesis when a newborn presents with severe cyanosis and voiceless crying upon birth, and esophageal intubation should be immediately attempted.

Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report.

BACKGROUND The VACTEREL association is an acronym that includes vertebral malformations (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TE), renal defects (R), and limb malformations (L). The aortic arch is the section between the ascending aorta and the descending aorta, where some variants have been described, such as the right aortic arch and bovine aortic arch, among others. A rare presentation in the Natsis classification is the "type X" where a bovine aortic arch and anomalous origin of the left vertebral artery are present. Several structural cardiac malformations have been described in the VACTEREL association. Still, there is no bovine arch or an anomalous left vertebral artery. CASE REPORT Our patient was a 3-year-old boy with a diagnosis of VACTEREL association (type III esophageal atresia, congenital hip dislocation, scoliosis, bilateral clubfoot, and grade IV biliary ureteral reflux). Echocardiographic findings showed changes in the aortic arch, and angiotomography and magnetic resonance angiography showed a bovine aortic arch and an anomalous left vertebral artery. At the time of diagnosis, there were no clinical manifestations or complications due to the anomalous origin of the left vertebral artery. CONCLUSIONS This is the first description of a bovine type X arch according to the Natsis classification in a VACTEREL association. In general, knowledge of the anatomical variants of the aortic arch and the origin and course of the vertebral arteries is of great clinical and interventional importance, mainly because of the risk of cerebral ischemia.

Long- term outcomes of congenital tracheal stenosis after slide tracheoplasty.

PURPOSE: Long-term outcomes of slide tracheoplasty in patients with congenital tracheal stenosis (CTS) have rarely been reported. This study aimed to clarify the long-term outcomes of CTS after slide tracheoplasty. METHODS: The medical records of 33 patients who underwent slide tracheoplasty for CTS at our institution between January 2005 and July 2018, with a follow-up duration > 5 years, were retrospectively reviewed. Patients' characteristics, perioperative condition, operative management, postoperative course, tracheal stenosis rates and growth data, were collected from medical records. RESULTS: The median operative age, minimum tracheal diameter, length of stenosis, duration of hospital stays, and follow-up duration were 8 months, 2.4 mm, 35 mm, 39 days, and 90 months, respectively. One patient died of bleeding in the right lung at 126 months postoperatively. Among the 10 patients requiring postoperative tracheostomy, seven were successfully decannulated at a median of 65 months postoperatively. Tracheal stenosis rates improved postoperatively and were subsequently maintained. Growth impairment and psychomotor delay were observed in 9 and 16 patients, respectively with significant differences found only in cases with genetic abnormalities and not in tracheal stenosis severity. CONCLUSION: Slide tracheoplasty for CTS leads to favorable long-term outcomes. However, various associated anomalies may influence growth and psychomotor development, emphasizing the importance of adequate support.

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

BACKGROUND: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant's life. RESULTS: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called 'pig bronchus' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. CONCLUSION: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.

Tracheobronchial abnormalities on computed tomography angiography in children with congenital heart disease.

OBJECTIVES: To evaluate the assortment of tracheobronchial abnormalities on computed tomography angiography (CTA) in children with congenital heart disease (CHD). METHODS: In this study approved by the Institute ethics committee, CTA studies of 182 children (age range: 2 days-8 years) with CHD, performed from July 2021 to March 2023 were analyzed. Two pediatric radiologists independently assessed the tracheobronchial airways (from the trachea to lobar bronchi) for developmental and branching anomalies and airway compromise (narrowing). In cases which demonstrated airway compromise, the extent and the cause of airway narrowing were evaluated, and the etiology were divided into extrinsic and intrinsic causes. Interobserver agreement between the two radiologists was calculated using kappa statistics. RESULTS: One hundred children demonstrated normal airway anatomy and no luminal narrowing. Airway narrowing was observed in 63 (34.6%) children (κ: 0.954), and developmental airway anomalies were seen in 32 (17.5%) children (κ: 0.935). Of the 63 children with airway narrowing, 47 (25.8%) children had extrinsic cause for narrowing, 11 (6%) children had intrinsic causes for narrowing, and 5 (2.7%) children had both intrinsic and extrinsic causes attributing to airway compromise. Significant airway narrowing (>50% reduction) was seen in 35 (19.2%) children (κ: 0.945). CONCLUSION: Tracheobronchial airway abnormalities are frequently associated in children with CHD and need to be appraised preoperatively. Cross-sectional imaging with CTA provides excellent information on tracheobronchial airway anatomy and caliber as well as delineates the possible etiology of airway narrowing, thus accurately diagnosing airway anomalies.

Laryngotracheoesophageal Cleft Type IV in a Preterm Neonate. A Case Report and Literature Review.

We present a case of a preterm neonate with a type IV laryngo-tracheo-oesophageal cleft, an uncommon congenital malformation, resulting from the failure of separation of the trachea and the oesophagus during fetal development, often associated with other deformities as well. Data in the literature shows that the long-term morbidity from the entity has declined over the last decades, even though prognosis remains unfavourable for types III and IV. This report emphasizes the complex issues neonatologists are faced with, when treating neonates with this rare disorder in the first days of life, what will raise suspicion of this rare medical entity, and that direct laryngoscopy/bronchoscopy finally depicts the exact extension of the medical condition. At the same time extensive evaluation for coexisting congenital anomalies should be performed. For all the above reasons, these neonates should be treated in specialized tertiary pediatric centers for multidisciplinary prompt management, which may improve, the outcome.

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Congenital tracheal stenosis is a rare life-threatening disorder caused by narrow O-shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic TBX5 variant (NM_181486.4:c.680T>C, p.(Ile227Thr)). The Ile227Thr-TBX5 protein was predicted to have a decreased stability by in silico protein structural analyses, and was shown to have a significantly reduced activity for the NPPA promoter by luciferase assay. The results, together with the expression of mouse Tbx5 in the lung and trachea and the development of tracheal cartilage dysplasia in the lung-specific Tbx5 null mice, imply the relevance of TBX5 pathogenic variants to congenital tracheal stenosis.

Congenital laryngo-tracheo-esophageal clefts: updates from a quaternary care pediatric airway unit.

PURPOSE: To review the operative techniques, outcomes, and complications following surgery in pediatric patients with laryngo-tracheo-esophageal clefts (LTEC). We describe a new combined approach to treat long LTECs. METHODS: Twenty-five patients underwent surgical repair for LTEC from March 2012 to July 2022 at our hospital. Every patient underwent a diagnostic endoscopy under general anesthesia and spontaneous ventilation to assess the LTEC and synchronous aero-digestive comorbidities/malformations. All patients underwent at least one surveillance endoscopy after the repair at our institution. RESULTS: The patients had multiple other malformations, specifically gastro-intestinal, synchronous airway, and cardiac. The cleft distribution according to the modified Benjamin and Inglis classification was type I (n = 5, 20%), type II (n = 6, 24%), type IIIa (n = 8, 32%), type IIIb (n = 4, 16%), and type IVa (n = 2, 8%). The median follow-up was 44.6 months. Five patients (20%) had undergone previous cleft corrective surgery(s). Seven patients (28%) had partial to complete breakdown of the repair, needing additional intervention(s), and two required a combined-open plus endoscopic repair. Preoperatively, most patients (n = 18, 72%) needed a feeding assistance. At latest follow-up, feeding assistance was weaned off in 13 out of 18 patients, which was a 72% improvement. Ten patients (40%) needed ventilation assistance before the surgery. Post-operatively, ventilatory assistance was weaned off in 6 patients, meaning a 60% improvement. CONCLUSION: LTEC are rare malformations, and their management needs precise diagnosis, appropriate surgical planning, and execution, and dedicated post-operative care. Primary and revision repair of long clefts with tracheal extension may require a combined approach.

Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country.

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4).  Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.

The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth. Her intelligence, growth, and development were slightly lower than those of normal children of the same age. Array comparative genomic hybridization revealed a 9.6-Mb deletion in 8p23.1-23.3 and a 0.52-Mb duplication in 12q23.1 in her genome. Furthermore, we reviewed the cases involving CNVs in patients with VACTERL, 8p23 deletion, and 12q23.1 duplication, and our case was the first displaying ARMs-related VACTERL association with CNV in 8p23 and 12q23.1. These findings enriched our understanding between VACTERL association and the mutations of 8p23 deletion and 12q23.1 duplication. IMPACT: This is a novel case of a Chinese girl with anorectal malformations (ARMs)-related VACTERL with an 8p23.1-23.3 deletion and 12q23.1 duplication. Cloaca malformation is presented with novel copy number variation in 8p23.1-23.3 deletion and 12q23.1 duplication.

Tracheal Agenesis: One Hospital's Nursing Experience With This Rare Airway Anomaly Case Report.

BACKGROUND: Tracheal agenesis is a rare and often fatal congenital anomaly that occurs early in fetal development. Tracheal agenesis occurs in one in 50,000 to 100,000 live births. This case study describes the nursing aspect of caring for this type of patient. CLINICAL FINDINGS: Airway anomalies in neonates can be diagnosed immediately at birth or later when the infant develops respiratory distress or respiratory failure. Diagnosis and management of tracheal agenesis is difficult and a complex problem requiring a multidisciplinary medical team's expert approach for its treatment. PRIMARY DIAGNOSIS: Respiratory distress syndrome versus tracheoesophageal fistula was suspected. INTERVENTIONS: The infant quickly decompensated, requiring intubation and eventual transfer to our tertiary care center for further evaluation of a possible airway anomaly. Because of deteriorating status, surgery was performed, and it was discovered the patient had tracheal agenesis, requiring the development of a 3-dimensional trachea specific for this patient. OUTCOMES: This article describes the nursing aspect of caring for this type of patient. PRACTICE RECOMMENDATIONS: This article describes the success of nursing interventions and teamwork among nursing and the multidisciplinary team for the successful discharge of this patient home to her family.

Incidence of congenital tracheal stenosis in left pulmonary artery sling diagnosed by bronchoscopy.

PURPOSE: Congenital tracheal stenosis (CTS) has been reported to occur in 50-65% of cases of left pulmonary artery sling (LPAS), but the exact incidence rate is unknown. This study aimed to determine the actual rate using bronchoscopy and to elucidate morphological features in computed tomography (CT) diagnosis. METHODS: We performed a single institutional retrospective review of all patients with LPAS between January 2010 and March 2022. The percentage of complete tracheal rings in patients with LPAS was evaluated using bronchoscopy. The anteroposterior/lateral diameter ratios at the smallest and largest diameters of each CTS patient's trachea were measured on CT. The Wilcoxon signed-rank test was used to analyze the differences between the two parts. RESULTS: Fifty-two patients with LPAS were enrolled. All patients had complete tracheal rings on bronchoscopy. CT analysis of 32 patients with CTS was performed. The median anteroposterior/lateral diameter ratio at the smallest diameter was 1.05 (interquartile range [IQR] 0.95-1.15); the median ratio at the largest diameter was 0.94 (IQR 0.89-0.99). There was a significant difference between the two parts (p = 0.013). CONCLUSION: CTS might be universally associated with LPAS. The circular tracheal cross-section on CT might imply the existence of a complete tracheal ring.

Manga traqueal cartilaginosa. Reporte de dos casos / Tracheal cartilaginous sleeve. Report of two cases

La manga traqueal cartilaginosa es una malformación de la vía aérea donde no se distinguen anillos traqueales. Un segmento continuo de cartílago se extiende desde el cricoides, pudiendo llegar hasta los bronquios principales. Está asociada a síndromes de craneosinostosis con la mutación FGFR2, además de muertes prematuras por oclusión de la tráquea con tapones mucosos. Se presenta el curso clínico de pacientes portadores de manga traqueal cartilaginosa en el contexto de una malformación craneofacial. Caso 1. Masculino, al nacer hipoplasia del tercio medio facial. Polisomnografía: índice de apnea/hipopnea de 37,7/hr. Laringotraqueobroncoscopía (LTBC): tráquea sin anillos cartilaginosos desde cricoides hasta bronquios fuentes. Se indica traqueostomía. Caso 2. Masculino, al nacer cráneo en trébol. Poligrafía: Síndrome de apnea/hipopnea obstructiva del sueño (SAHOS) leve. Revisión vía aérea: desde subglotis hasta bronquios principales se extiende tráquea en manga. Se indica traqueostomía. En el contexto de una craneosinostosis en niños, especialmente con mutación FGFR2, creemos necesario realizar una LTBC en búsqueda de manga traqueal, ya que si es diagnosticada se debe recomendar traqueostomía, mejorando su expectativa de vida. Si la indicación de traqueostomía fuese por SAHOS, es obligatoria una LTBC preoperatoria, para evitar el no tener referencias anatómicas en el proceso.

A tracheal cartilaginous sleeve is a malformation of the airway in which the tracheal rings are indistinguishable. A continuous segment of cartilage extends from the cricoid, and it may reach all the way to the main bronchi. It is associated with various craniosynostosis syndromes with the FGFR2 mutation, in addition to premature deaths due to occlusions caused by mucus plugs in the trachea. Here we present the clinical course of patients who suffer from Tracheal Cartilaginous Sleeve in the context of a craniofacial malformation. First case. Male, presenting at birth a midfacial hypoplasia. Polysomnography: presents a 37,7/h index of apnea/hypopnea. Laryngotracheobronchoscopy (LTB): trachea is without cartilaginous rings from the cricoid to the main bronchi. A tracheostomy is indicated. Second case. Male, cloverleaf skull at birth. Polysomnography: Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) non-severe degree. Revision of the airway: the trachea in sleeve extends from the subglottis to the main bronchi. A tracheostomy is indicated. In the context of craniosynostosis in children, especially with FGFR2 mutation, we believe it is necessary to do an LTB in the search of a tracheal sleeve, since if it is diagnosed a tracheostomy must be indicated, to better the life expectancy of the patient. If the tracheostomy indication comes from an OSAHS, a preoperatory LTB is obligatory to avoid not having anatomical references during the procedure.

Characteristics and Outcomes of Surgical Treatment for Bronchial Anomalies.

OBJECTIVES: Bronchial anomalies are rare but challenging conditions to treat in children, encompassing a variety of structural abnormalities that could compromise airway patency. This includes complete rings, absent cartilage, traumatic avulsions, bronchoesophageal fistulas, and cartilaginous sleeves. The objective of this study is to describe the characteristics and outcomes of a series of pediatric cases of bronchial anomalies that were treated by slide tracheobronchoplasty. METHODS: This is a single-institution retrospective case series of pediatric patients with bronchial anomalies who underwent surgical treatment between February 2004 and April 2020. Data extracted from electronic medical records included patient demographics, comorbidities, and surgical outcomes. RESULTS: There were a total of 29 patients included in the study, of which 14 had complete bronchial rings, 8 had absent bronchial rings, 4 had traumatic bronchial avulsions, 2 had bronchoesophageal fistulas, and one had a cartilaginous sleeve. Median follow-up time was 13 months (with a range of 0.5-213 months). The overall mortality rate was 17.2% (5 patients), all of whom had complete bronchial rings. Patients with complete bronchial rings also had a higher rate of not only cardiac (85.7%) and pulmonary comorbidities (85.7%) but also secondary airway lesions (78.6%). CONCLUSION: This is the largest series to date describing surgical treatment for bronchial anomalies. Complete bronchial rings were the most common anomaly treated, followed by absent rings and trauma. Surgical treatment can be successful but mortality rates are higher in patients with complete bronchial rings, possibly due to higher rates of pulmonary and cardiac comorbidities. LEVEL OF EVIDENCE: 4 Laryngoscope, 133:3334-3340, 2023.