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International Journal of Pediatric... Oct 2017Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated... (Review)
Review
OBJECTIVES
Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated is very high, with only a few long-term survival cases reported. We describe the findings of a systematic review on the clinical presentation and airway management of TA.
METHODS
Using the keywords "tracheal atresia", "tracheal agenesis" and "tracheal hypoplasia" a search through Embase and Pubmed databases was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol. Articles published from 1950 to 2015 in English, French, Italian, Portuguese and Spanish were included. Exclusion criteria were cases of stillborn, and unclear diagnosis or outcome.
RESULTS
149 cases of TA were identified after reviewing 1125 initial references. There was a male preponderance (65%), and associated malformations were described in 94.2% of patients. Prenatal ultrasound was abnormal in 56.3% of cases, with polyhydramnios being the most common finding. The most frequent type of TA was Faro Type C. 94 (41.3%) patients did not survive beyond the first 24 h of life. Only 13 (8.4%) patients survived more than three months of life, after undergoing a variety of surgical approaches.
CONCLUSION
This review, which to our knowledge is the largest one to date, confirms that TA is a rare malformation, occurs more frequently in males, and has a very high mortality rate. Depending on the presence and type of concomitant malformation, as well of the length of the remaining trachea, different surgical management options are described.
Topics: Airway Management; Constriction, Pathologic; Female; Humans; Infant, Newborn; Male; Pregnancy; Survival Rate; Trachea
PubMed: 28964311
DOI: 10.1016/j.ijporl.2017.07.028 -
Pathologica Dec 2009Tracheal atresia is an uncommon congenital malformation with a high mortality rate. Clinical symptoms occur suddenly after birth. The diagnosis is suspected in any... (Review)
Review
Tracheal atresia is an uncommon congenital malformation with a high mortality rate. Clinical symptoms occur suddenly after birth. The diagnosis is suspected in any infant in whom improved ventilation is obtained despite aggressive attempts at resuscitation. We describe a small gestational week 34 male newborn affected by tracheal atresia without esophageal fistula with associated fetal growth restriction, ascites and polyhydramnios. Post mortem examination revealed a diffuse cyanotic status, abdominal ascites and a low birth weight. A 3 cm tract of trachea was documented that distantly ended in a blind pouch and without tracheoesophageal fistulae and enlarged bulky lungs connected to each other by a common thin-walled bronchus. Histological examination showed a normal conformed larynx and scratchily cartilaginous disks in the proximal tract of the short trachea. Vascular space referred to small arteries and veins, thin bands of fibrous tissue and adipose tissue were detected under the blind pouch. Lung distal airspaces were lined by premature cubic epithelium separated by a broad poorly vascularized interstitium. A striking interstitial and alveolar edema was remarkable.
Topics: Abnormalities, Multiple; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Trachea; Tracheal Diseases
PubMed: 20387710
DOI: No ID Found -
Pediatric Pulmonology May 2021Airway anomalies are accountable for a substantial part of morbidity and mortality in children with Down syndrome (DS). Although tracheal anomalies occur more often in... (Review)
Review
INTRODUCTION
Airway anomalies are accountable for a substantial part of morbidity and mortality in children with Down syndrome (DS). Although tracheal anomalies occur more often in DS children, a structured overview on the topic is lacking. We systematically reviewed the characteristics of tracheal anomalies in DS children.
METHODS
A MEDLINE and EMBASE search for DS and tracheal anomalies was performed. Tracheal anomalies included tracheal stenosis, complete tracheal ring deformity (CTRD), tracheal bronchus, tracheomalacia, tracheal web, tracheal agenesis or atresia, laryngotracheoesophageal cleft type 3 or 4, trachea sleeve, and absent tracheal rings.
RESULTS
Fifty-nine articles were included. The trachea of DS children is significantly smaller than non-DS children. Tracheomalacia and tracheal bronchus are seen significantly more often in DS children. Furthermore, tracheal stenosis, CTRD, and tracheal compression by vascular structures are seen regularly in children with DS. These findings are reflected by the significantly higher frequency of tracheostomy and tracheoplasty performed in DS children.
CONCLUSION
In children with DS, tracheal anomalies occur more frequently and tracheal surgery is performed more frequently than in non-DS children. When complaints indicative of tracheal airway obstruction like biphasic stridor, dyspnea, or wheezing are present in children with DS, diagnostic rigid laryngotracheobronchoscopy with special attention to the trachea is indicated. Furthermore, imaging studies (computed tomography, magnetic resonance imaging, and ultrasound) play an important role in the workup of DS children with airway symptoms. Management depends on the type, number, and extent of tracheal anomalies. Surgical treatment seems to be the mainstay in severe cases.
Topics: Child; Down Syndrome; Humans; Infant; Larynx; Trachea; Tracheal Diseases; Tracheal Stenosis
PubMed: 33434377
DOI: 10.1002/ppul.25203 -
The Journal of Thoracic and... Jun 2017
Topics: Constriction, Pathologic; Esophagus; Humans; Infant, Newborn; Salvage Therapy; Trachea
PubMed: 28242020
DOI: 10.1016/j.jtcvs.2017.01.039 -
Pediatric Radiology Oct 2021Tracheal atresia causes some secondary changes (dilated trachea, flattened/inverted diaphragm, hyperintense and hyperinflated lungs). They can be reduced if a high...
BACKGROUND
Tracheal atresia causes some secondary changes (dilated trachea, flattened/inverted diaphragm, hyperintense and hyperinflated lungs). They can be reduced if a high airway fistula is present.
OBJECTIVE
This study evaluated fetal MR images of tracheal atresia and the secondary changes, focusing on the presence of a fistula.
MATERIALS AND METHODS
We assessed fetal MR images of tracheal atresia without fistula (n=4, median 26 weeks), tracheal atresia with fistula (n=4, median 33 weeks) and controls (n=30, median 32 weeks). We evaluated airway obstruction using true-positive rate in tracheal atresia and false-positive rate in controls indicating they are likely normal variants. Tracheal diameter, craniocaudal-anteroposterior ratio of the right hemidiaphragm, lung-to-liver signal intensity ratio, and cardiothoracic ratio were compared among the three groups using the Kruskal-Wallis test followed by pairwise comparison using the Mann-Whitney U test.
RESULTS
True-positive rate was 100% in tracheal atresia, while false-positive rate was 20% in controls. The Kruskal-Wallis test showed differences among groups in craniocaudal-anteroposterior ratio and cardiothoracic ratio (P<0.001) but not in tracheal diameter (P=0.256) or lung-to-liver signal intensity ratio (P=0.082). The pairwise comparison in craniocaudal-anteroposterior ratio and cardiothoracic ratio showed differences between controls and tracheal atresia without fistula (P<0.01) and with fistula (P<0.05).
CONCLUSION
Fetal MRI is useful for the diagnosis of tracheal atresia, and detection of airway obstruction is essential. Lower craniocaudal-anteroposterior ratio and cardiothoracic ratio might be reliable measures even if a fistula is present.
Topics: Airway Obstruction; Esophageal Atresia; Humans; Magnetic Resonance Imaging; Respiratory System Abnormalities; Trachea; Tracheoesophageal Fistula
PubMed: 33988754
DOI: 10.1007/s00247-021-05092-x -
Orphanet Journal of Rare Diseases Mar 2024In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished...
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.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Trachea; Constriction, Pathologic; Esophagus; Limb Deformities, Congenital
PubMed: 38475835
DOI: 10.1186/s13023-024-03106-z -
Anesthesiology Oct 2018
Topics: Adolescent; Bronchoscopy; Humans; Male; Mucopolysaccharidosis IV; Trachea
PubMed: 29771708
DOI: 10.1097/ALN.0000000000002268 -
The Journal of Laryngology and Otology Mar 2016This paper discusses three cases of tracheal agenesis that presented within a six-week period to the Norfolk and Norwich University Hospital. By reviewing the available... (Review)
Review
OBJECTIVE
This paper discusses three cases of tracheal agenesis that presented within a six-week period to the Norfolk and Norwich University Hospital. By reviewing the available literature on tracheal agenesis, the report aims to outline a protocol for future prenatal and postnatal management.
METHODS
A case series and a literature review.
RESULTS
Three cases of tracheal agenesis presented in the classical manner, with respiratory distress and unsuccessful intubation following delivery. A literature review confirmed that prenatal diagnosis requires future innovation; survival is rare and is predominately reliant on intubation of the oesophagus when a patent tracheoesophageal fistula is present. In most cases, tracheal agenesis represents part of the 'VATER' association: vertebral defects, anal atresia, tracheoesophageal fistula with oesophageal atresia, and radial or renal dysplasia. Complex, multiple-stage surgical procedures have been described; however, no survival to adolescence is documented.
CONCLUSION
There is a call for improved prenatal diagnosis to allow both adequate counselling of parents and preparation for multi-specialty management at delivery. In addition, these cases highlight the ongoing need for improved congenital anomaly data within the UK, with currently only 49 per cent of England's births being registered.
Topics: Constriction, Pathologic; Fatal Outcome; Female; Humans; Infant, Newborn; Male; Perinatal Care; Trachea
PubMed: 26740311
DOI: 10.1017/S0022215115003515 -
The Annals of Thoracic Surgery Sep 1979Tracheal agenesis is a rare cause of respiratory distress in the neonatal period. Temporary survival depends on ventilation through the esophagus. Thirty-eight case...
Tracheal agenesis is a rare cause of respiratory distress in the neonatal period. Temporary survival depends on ventilation through the esophagus. Thirty-eight case reports of tracheal agenesis (including one from this institution) have appeared in the literature. In this paper, we present the case reports of our 2 patients and review the literature. Tracheal agenesis is associated with a wide variety of congenital anomalies, the most frequent being ventricular septal defect. A new classification encompassing seven types of tracheal agenesis is described.
Topics: Abnormalities, Multiple; Female; Humans; Infant, Newborn; Male; Radiography; Trachea
PubMed: 485631
DOI: 10.1016/s0003-4975(10)63123-2 -
The Anatomical Record Oct 1998A spectrum of tracheo-esophageal anomalies has been described in an adriamycin-treated model with common features to the human pattern. Tracheal agenesis was part of... (Comparative Study)
Comparative Study
A spectrum of tracheo-esophageal anomalies has been described in an adriamycin-treated model with common features to the human pattern. Tracheal agenesis was part of this spectrum. It is a rare congenital anomaly that has not been described in embryos. Virgin timed-pregnant Sprague-Dawley rats were injected with adriamycin i.p. at a dose of 2 mg/Kg on days 6-9 of gestation (plug day = day 0). Fetuses were recovered at term and histologic assessment of tracheo-esophageal anomalies was made. Also, embryos were removed on different gestational days and the embryology of these defects was analysed. Two out of sixty-two fetuses and nine out of 180 embryos were identified with tracheal atresia. Type III tracheal atresia was seen in the full-term fetuses with a tracheo-esophageal fistula arising from the origin of the left main bronchus. Day 13 embryos did not show normal tracheal development; instead, the lung buds developed from the ventral aspect of the foregut which continued to the stomach as a lower esophageal segment. A blind ending pouch was seen on the ventral aspect of the upper part of the foregut. The embryogenesis of tracheal atresia was similar to that of esophageal atresia except that the blind upper foregut pouch developed ventrally rather than dorsally.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Animals; Antibiotics, Antineoplastic; Disease Models, Animal; Doxorubicin; Embryonic and Fetal Development; Esophageal Atresia; Female; Humans; Pregnancy; Rats; Rats, Sprague-Dawley; Species Specificity; Syndrome; Trachea; Tracheoesophageal Fistula
PubMed: 9776081
DOI: 10.1002/(SICI)1097-0185(199810)252:2<271::AID-AR12>3.0.CO;2-K