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Orphanet Journal of Rare Diseases Aug 2011VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac... (Review)
Review
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.
Topics: Abnormalities, Multiple; Anal Canal; Anus, Imperforate; Esophagus; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Kidney; Limb Deformities, Congenital; Male; Radius; Spine; Trachea; Tracheoesophageal Fistula
PubMed: 21846383
DOI: 10.1186/1750-1172-6-56 -
European Respiratory Review : An... Dec 2020Tracheo-oesophageal fistula (TOF) is a pathological connection between the trachea and the oesophagus that is associated with various underlying conditions including... (Review)
Review
Tracheo-oesophageal fistula (TOF) is a pathological connection between the trachea and the oesophagus that is associated with various underlying conditions including malignancies, infections, inhalation injuries and traumatic damage. As the condition spans multiple organ systems with varying aetiologies and acuities, TOF poses unique diagnostic and management challenges to pulmonologists, gastroenterologists and thoracic surgeons alike. Although stents have been a cornerstone in the management of TOF, there exists a large gap in our understanding of their efficacy and precise methodology, making stenting procedure both art and science. TOFs relating to underlying oesophageal or tracheal malignancies require advanced understanding of the airway and digestive tract anatomy, dimensions of the fistula, stent characteristics and types, and the interplay between the oesophageal stent and the airway stent if dual stenting procedure is elected. In this review article, we review the most up-to-date data on risk factors, clinical manifestations, diagnostic approaches, management methods and prognosis. Consequently, this article serves to evaluate current therapeutic strategies and the future directions in the areas of 3D-printed stents, over-the-scope clipping systems, tissue matrices and atrial septal closure devices.
Topics: Adult; Humans; Prognosis; Stents; Trachea; Tracheoesophageal Fistula
PubMed: 33153989
DOI: 10.1183/16000617.0094-2020 -
Therapeutic Advances in Respiratory... Apr 2017Tracheoesophageal fistulas (TEFs) often occur with esophageal or bronchial carcinoma. Currently, we rely on implantation of delicate devices, such as self-expanding and... (Review)
Review
Tracheoesophageal fistulas (TEFs) often occur with esophageal or bronchial carcinoma. Currently, we rely on implantation of delicate devices, such as self-expanding and silicone stents, in the esophagus or trachea to cover the fistula and expand the stenosis in order to relieve patient pain. However, because each case is different, our approach may not be effective for every patient. Consequently, new devices and technology have emerged to address these situations, such as degradable stents, Amplatzer devices, endobronchial one-way umbrella-shaped valves, and transplantation of mesenchymal stem cells. Although some studies have shown such alternatives can be reasonable solutions in special cases, further development of other new and effectual techniques is of utmost importance.
Topics: Bronchial Neoplasms; Equipment Design; Esophageal Neoplasms; Humans; Pain; Stents; Tracheoesophageal Fistula
PubMed: 28391759
DOI: 10.1177/1753465816687518 -
American Journal of Medical Genetics.... Dec 2022Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in...
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.
Topics: Humans; Tracheoesophageal Fistula; Esophageal Atresia; Exome; Exome Sequencing
PubMed: 36135330
DOI: 10.1002/ajmg.a.62976 -
Genes Oct 2021Tracheoesophageal Fistula (TOF) is a congenital anomaly for which the cause is unknown in the majority of patients. OA/TOF is a variable feature in many (often mono-)... (Review)
Review
Tracheoesophageal Fistula (TOF) is a congenital anomaly for which the cause is unknown in the majority of patients. OA/TOF is a variable feature in many (often mono-) genetic syndromes. Research using animal models targeting genes involved in candidate pathways often result in tracheoesophageal phenotypes. However, there is limited overlap in the genes implicated by animal models and those found in OA/TOF-related syndromic anomalies. Knowledge on affected pathways in animal models is accumulating, but our understanding on these pathways in patients lags behind. If an affected pathway is associated with both animals and patients, the mechanisms linking the genetic mutation, affected cell types or cellular defect, and the phenotype are often not well understood. The locus heterogeneity and the uncertainty of the exact heritability of OA/TOF results in a relative low diagnostic yield. OA/TOF is a sporadic finding with a low familial recurrence rate. As parents are usually unaffected, de novo dominant mutations seems to be a plausible explanation. The survival rates of patients born with OA/TOF have increased substantially and these patients start families; thus, the detection and a proper interpretation of these dominant inherited pathogenic variants are of great importance for these patients and for our understanding of OA/TOF aetiology.
Topics: Esophageal Atresia; Genetic Counseling; Genetic Predisposition to Disease; Humans; Mutation; SOXB1 Transcription Factors; Survival Rate; Tracheoesophageal Fistula; Twins
PubMed: 34680991
DOI: 10.3390/genes12101595 -
Scientific Reports Mar 2023There are various surgical methods for tracheoesophageal fistula; however, there is presently no unified standard. Based on the magnetic compression technique, we...
There are various surgical methods for tracheoesophageal fistula; however, there is presently no unified standard. Based on the magnetic compression technique, we designed a novel method for the treatment of tracheoesophageal fistula. The purpose of this study was to verify its feasibility in an animal experiment. Six beagle dogs underwent surgical repair after constructing a tracheoesophageal fistula model. After the tracheal and esophageal spaces were freed during the operation, two magnets were used to clamp the fistula. The operation time, intraoperative blood loss, postoperative complications, and wound healing were monitored. Samples were obtained 14 days after the operation, and fistula repair was observed. The tracheoesophageal fistula repair operation was successfully completed for all six beagles. The average operation time was 23.67 ± 4.50 min. The average intraoperative blood loss was less than 10 mL. One dog had a postoperative wound infection, and the rest had no postoperative complications. The wound healed well. In all dogs, after specimen collection, it was observed that the fistula was successfully closed and the mucosal layer was smooth and flat. Histological observation showed that the anastomosis was slightly inflamed, the mucosal layer and surrounding tissues were arranged neatly, and the structure was slightly disordered. Magnetic compression technique can be effectively used to repair tracheoesophageal fistula, shorten the operation time, and simplify the operation procedure, and thus, it has the potential for clinical application.
Topics: Dogs; Animals; Tracheoesophageal Fistula; Trachea; Anastomosis, Surgical; Magnetic Phenomena
PubMed: 36964166
DOI: 10.1038/s41598-023-31903-2 -
Acta Gastro-enterologica Belgica 2018We present a case of a 28-year old woman who presented with bizarre wheezing breath sounds on expiration and dysphagia, with unexplained significant dilation of the...
We present a case of a 28-year old woman who presented with bizarre wheezing breath sounds on expiration and dysphagia, with unexplained significant dilation of the esophagus mimicking achalasia finally leading to the diagnosis of a very small congenital tracheoesophageal fistula (TEF). Congenital TEF is usually detected shortly after birth and is typically accompanied by esophageal atresia. Congenital TEF without esophageal atresia (H-type fistula) can be missed in early life and diagnosis may be postponed until adulthood due to subtle symptoms. Diagnosis is usually based upon a combination of esophagoscopy, bronchoscopy, barium esophagography and CT-scan. The only clue can be the finding of a significant dilated aperistaltic esophagus, with subsequent more detailed CT reconstruction revealing a very tiny H-type TEF. It is important to raise the awareness of small H-type TEF as a possible cause of achalasia-like esophageal dilation in adulthood and of very unusual and bizarre wheezing breath sounds.
Topics: Adult; Bronchoscopy; Digestive System Surgical Procedures; Esophageal Atresia; Esophagoscopy; Female; Humans; Tracheoesophageal Fistula; Treatment Outcome
PubMed: 30645925
DOI: No ID Found -
Pediatric Surgery International Oct 2023This study was performed to describe the current clinical practice and outcomes of type D esophageal atresia. We retrospectively analyzed 10 patients who were diagnosed... (Review)
Review
This study was performed to describe the current clinical practice and outcomes of type D esophageal atresia. We retrospectively analyzed 10 patients who were diagnosed with type D esophageal atresia and underwent esophageal atresia and tracheoesophageal fistula repair in the Capital Institute of Pediatrics and Beijing Children's Hospital from January 2017 to May 2022. Ten patients include three newborns and seven non-newborns. Seven (70%) cases were misdiagnosed as type C esophageal atresia before the first operation. Three neonatal children underwent thoracoscopic distal tracheoesophageal fistula ligation and esophageal anastomosis: the proximal tracheoesophageal fistula was simultaneously repaired with thoracoscopy in one of these children, and the proximal tracheoesophageal fistula was not detected under thoracoscopy in the other two children. Among the seven non-neonatal children, one underwent repair of the proximal tracheoesophageal fistula through the chest and the other six underwent repair through the neck. Nine patients were cured, and one died of complications of severe congenital heart disease. Type D esophageal atresia lacks specific clinical manifestations. Misdiagnosis as type C esophageal atresia is the main cause of an unplanned reoperation. Patients without severe malformations have a good prognosis.
Topics: Humans; Infant, Newborn; Child; Esophageal Atresia; Tracheoesophageal Fistula; Retrospective Studies; Thoracoscopy; Digestive System Surgical Procedures
PubMed: 37815659
DOI: 10.1007/s00383-023-05519-6 -
Pediatric Surgery International May 2021H type tracheoesophageal fistula (H-TEF) is a rare congenital anomaly. Management may be complicated by late diagnosis and variation(s) in the therapeutic strategy. A...
BACKGROUND
H type tracheoesophageal fistula (H-TEF) is a rare congenital anomaly. Management may be complicated by late diagnosis and variation(s) in the therapeutic strategy. A systematic review of published studies explores the utility of diagnostic studies, operations and postoperative complications.
METHODS
Medline and PubMed database(s) were searched for ALL studies reporting H-TEF during 1997-2020. Using PRISMA methodology, manuscripts were screened for eligibility and reporting.
RESULTS
Forty-seven eligible studies were analysed. Primary diagnosis varied widely with surgeons performing oesophagography and trachea-bronchoscopy. Preoperative localisation techniques included fluoroscopy, guidewire placement and catheterisation. A cervical approach (209 of 272 cases), as well as thoracotomy, thoracoscopy and endoscopic fistula ligation, were all described. Morbidity included fistula recurrence (1.7%), leak (2%), tracheomalacia (3.4%) and respiratory sequelae (1%). The major adverse complication in all studies was vocal cord palsy secondary to laryngeal nerve injury (18.5%) yet strikingly few centres routinely reported undertaking vocal cord screening pre or postoperatively.
CONCLUSION
This study shows that paediatric surgeons record low volume activity with H type tracheoesophageal fistula. Variation(s) in clinical practice are widely evident. Laryngeal nerve injury and its subsequent management warrant special consideration. Care pathways may offset attendant morbidity and define 'best practice.'
Topics: Bronchoscopy; Female; Humans; Infant, Newborn; Male; Postoperative Complications; Postoperative Period; Recurrent Laryngeal Nerve Injuries; Retrospective Studies; Thoracoscopy; Thoracotomy; Trachea; Tracheoesophageal Fistula; Tracheomalacia
PubMed: 33474597
DOI: 10.1007/s00383-020-04853-3 -
Orphanet Journal of Rare Diseases May 2007Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent... (Review)
Review
Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is a tracheooesophageal fistula without atresia. OA occurs in 1 in 2500 live births. Infants with OA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects). The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh). The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. The diagnosis may be suspected prenatally by a small or absent stomach bubble on antenatal ultrasound scan at around 18 weeks gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. A nasogastric tube should be passed at birth in all infants born to a mother with polyhydramnios as well as to infants who are excessively mucusy soon after delivery to establish or refute the diagnosis. In OA the tube will not progress beyond 10 cm from the mouth (confirmation is by plain X-ray of the chest and abdomen). Definitive management comprises disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the oesophagus. Where there is a "long gap" between the ends of the oesophagus, delayed primary repair should be attempted. Only very rarely will an oesophageal replacement be required. Survival is directly related to birth weight and to the presence of a major cardiac defect. Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30-50% in the presence of both risk factors.
Topics: Abnormalities, Multiple; Animals; Digestive System Surgical Procedures; Esophageal Atresia; Genetic Testing; Humans; Infant, Newborn; Patient Selection; Preoperative Care; Prognosis; Risk Assessment; Tracheoesophageal Fistula
PubMed: 17498283
DOI: 10.1186/1750-1172-2-24