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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 -
European Review For Medical and... Oct 2022
Topics: Humans; Tracheoesophageal Fistula
PubMed: 36263567
DOI: 10.26355/eurrev_202210_29868 -
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 -
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 -
The Journal of the Association of... Apr 2009
Topics: Accidents, Traffic; Humans; Intubation, Gastrointestinal; Magnetic Resonance Imaging; Male; Risk Factors; Tracheoesophageal Fistula; Young Adult
PubMed: 19702037
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Jul 2021Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) remains one of the most frequently missed congenital anomalies prenatally. The aim of our study was to...
OBJECTIVE
Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) remains one of the most frequently missed congenital anomalies prenatally. The aim of our study was to elucidate the sonographic manifestation of EA/TEF throughout pregnancy.
METHODS
This was a retrospective study of data obtained from a tertiary center over a 12-year period. The prenatal ultrasound scans of fetuses with EA/TEF were assessed to determine the presence and timing of detection of three principal signs: small/absent stomach and worsening polyhydramnios, both of which were considered as 'suspected' EA/TEF, and esophageal pouch, which was considered as 'detected' EA/TEF. We assessed the yield of the early (14-16 weeks' gestation), routine mid-trimester (19-26 weeks) and third-trimester (≥ 27 weeks) anomaly scans in the prenatal diagnosis of EA/TEF.
RESULTS
Seventy-five cases of EA/TEF with available ultrasound images were included in the study. A small/absent stomach was detected on the early anomaly scan in 3.6% of fetuses scanned, without a definitive diagnosis. On the mid-trimester scan, 19.4% of scanned cases were suspected and 4.3% were detected. On the third-trimester anomaly scan, 43.9% of scanned cases were suspected and 33.9% were detected. An additional case with an esophageal pouch was detected on magnetic resonance imaging (MRI) in the mid-trimester and a further two were detected on MRI in the third trimester. In total, 44.0% of cases of EA/TEF in our cohort were suspected, 33.3% were detected and 10.7% were suspected but, eventually, not detected prenatally.
CONCLUSIONS
Prenatal diagnosis of EA/TEF on ultrasound is not feasible before the late second trimester. A small/absent stomach may be visualized as early as 15 weeks' gestation. Polyhydramnios does not develop before the mid-trimester. An esophageal pouch can be detected as early as 22 weeks on a targeted scan in suspected cases. The detection rates of all three signs increase with advancing pregnancy, peaking in the third trimester. The early and mid-trimester anomaly scans perform poorly as a screening and diagnostic test for EA/TEF. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Esophageal Atresia; Esophagus; Female; Fetal Development; Fetus; Humans; Longitudinal Studies; Polyhydramnios; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Retrospective Studies; Stomach; Tracheoesophageal Fistula; Ultrasonography, Prenatal
PubMed: 32304613
DOI: 10.1002/uog.22050 -
Seminars in Pediatric Surgery Dec 2022Anomalies in tracheo-esophageal development result in a spectrum of congenital malformations ranging from, most commonly, esophageal atresia with or without...
Anomalies in tracheo-esophageal development result in a spectrum of congenital malformations ranging from, most commonly, esophageal atresia with or without trachea-esophageal fistula (EA+/-TEF) to esophageal web, duplication, stricture, tracheomalacia and tracheal agenesis. Despite the relative frequency of EA, however, the underlying etiology remains unknown and is likely due to a combination of genetic, epigenetic and environmental factors. In recent years, animal models have dramatically increased our understanding of the molecular and morphological processes involved in normal esophageal development during the key stages of anterior-posterior regionalization, dorsal-ventral patterning and morphogenic separation. Moreover, the use of animal models in conjunction with increasingly advanced techniques such as genomic sequencing, sophisticated live imaging studies and organoid models have more recently cast light on potential mechanisms involved in EA pathogenesis. This article aims to unravel some of the mysteries behind the anatomy and embryology of EA whilst providing insights into future directions for research.
Topics: Animals; Humans; Tracheoesophageal Fistula; Esophageal Atresia; Trachea; Tracheomalacia
PubMed: 36459913
DOI: 10.1016/j.sempedsurg.2022.151231 -
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