Materiały źródłowe

• #1 Esophageal Atresia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560848/

  The trachea and esophagus arise from a separation of a common foregut tube during early fetal development. Failure of separation or complete development of this foregut tube can lead to tracheoesophageal fistula (TEF) and esophageal atresia (EA). […] The etiology of esophageal atresia with or without an associated tracheoesophageal fistula is the failure of separation or incomplete development of the foregut. The fistula tract derives from a branch of the embryonic lung bud that fails to undergo branching because of defective epithelial-mesenchymal interactions. […] TEF and EA result from the defective lateral separation of foregut into the esophagus and trachea. A fistula tract between the esophagus and the trachea is possibly formed secondary to a defect in epithelial-mesenchymal interactions. TEF and EA are present together in about 90 percent of cases. EA and TEF are classified into 5 categories (types A-E) based on anatomical configuration.

• #2 Esophageal atresia/tracheoesophageal fistula: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/

  Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). […] If this separation does not occur properly, EA/TEF is the result. […] In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. […] Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. […] While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. […] EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids.

• #3 Congenital anomalies of the intrathoracic airways and tracheoesophageal fistula – UpToDate

  https://www.uptodate.com/contents/congenital-anomalies-of-the-intrathoracic-airways-and-tracheoesophageal-fistula

  Tracheoesophageal fistula (TEF) is a common congenital anomaly of the respiratory tract, with an incidence of approximately 1 in 3500 to 1 in 4500 live births. […] Pathogenesis — TEF and EA are caused by a defect in the lateral septation of the foregut into the esophagus and trachea. The fistula tract is thought to derive from a branch of the embryonic lung bud that fails to undergo branching because of defective epithelial-mesenchymal interactions.

• #4 Tracheoesophageal Fistula: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/186735-overview

  Approximately 17-70% of children with tracheoesophageal fistulas (TEFs) have associated developmental anomalies. […] Knowledge of embryology is essential to understand the pathogenesis of congenital TEFs. […] The esophagus and trachea both develop from the primitive foregut. In a 4- to 6-week-old embryo, the caudal part of the foregut forms a ventral diverticulum that evolves into the trachea. The longitudinal tracheoesophageal fold fuses to form a septum that divides the foregut into a ventral laryngotracheal tube and a dorsal esophagus. The posterior deviation of the tracheoesophageal septum causes incomplete separation of the esophagus from the laryngotracheal tube and results in a TEF. […] Incomplete formation of the esophagus is known as esophageal atresia, which may be associated with TEFs. Many anatomic variations of esophageal atresia with or without a TEF may occur. The most common anomaly consists of a blind esophageal pouch and a distal TEF. Pure esophageal atresia without a TEF is the second most common form. The third most common anomaly is the H-type fistula, which consists of a TEF without esophageal atresia.

• #5 Esophageal atresia & tracheo-esophageal fistula | PPT

  https://www.slideshare.net/slideshow/esophageal-atresia-tracheoesophageal-fistula/68172917

  Esophageal atresia and tracheoesophageal fistula are congenital anomalies where there is an abnormal connection between the trachea and esophagus. They can range from a complete absence of the esophagus to a single or double fistula connecting the two organs. Surgical repair is usually done shortly after birth to reconnect the esophagus and prevent aspiration, with long term management involving feeding support and monitoring for complications. […] Congenital discontinuity of esophageal lumen is known as esophageal atresia. Tracheoesophageal Fistula is an abnormal communication between trachea and esophagus. […] Both the esophagus and trachea originate from the primitive foregut and this is thought to be a separation defect. At week 4, the tracheoesophageal diverticulum developed to tracheoesophageal septum. There is a failure to separation in the septum leading to fistula. During week 8, the primitive gut failure of recanalization leads to atresia.

• #6 Tracheoesophageal Fistula and Esophageal Atresia – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=tracheoesophageal-fistula-and-esophageal-atresia-90-P02018

  TE fistula is a birth defect. This means its a problem you are born with. It happened when your baby was forming during pregnancy. […] TE fistula often happens with another birth defect called esophageal atresia. This means your babys esophagus doesnt form well during pregnancy. It forms in 2 parts instead of 1. One part connects to the throat. The other part connects to the stomach. But the 2 parts dont connect to each other. […] As a baby is growing during pregnancy, organ systems are forming. The trachea and the esophagus start forming as 1 tube. At 4 to 8 weeks of pregnancy, a wall forms between the esophagus and trachea. This separates them into 2 tubes. TE fistula and esophageal atresia happen when this wall doesnt form as it should. […] TE fistula is an abnormal connection between the esophagus and the trachea. Esophageal atresia happens when the esophagus has 2 segments. These parts dont connect to each other.

• #7 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0215/p910.html

  Esophageal atresia, with or without tracheoesophageal fistula, is a fairly common congenital disorder that family physicians should consider in the differential diagnosis of a neonate who develops feeding difficulties and respiratory distress in the first few days of life. […] Esophageal atresia with tracheoesophageal fistula occurs in one of 3,000 to 5,000 births. […] It is also recognized that prompt diagnosis with appropriate clinical management and expeditious referral to a tertiary care center have had a dramatic impact on the improved survival of these infants. […] Esophageal atresia results if the tracheoesophageal septum is deviated posteriorly. This deviation causes incomplete separation of the esophagus from the laryngotracheal tube and results in a concurrent tracheoesophageal fistula.

• #8 Tracheoesophageal Fistula: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/186735-overview

  Approximately 17-70% of children with tracheoesophageal fistulas (TEFs) have associated developmental anomalies. […] Knowledge of embryology is essential to understand the pathogenesis of congenital TEFs. […] The esophagus and trachea both develop from the primitive foregut. In a 4- to 6-week-old embryo, the caudal part of the foregut forms a ventral diverticulum that evolves into the trachea. The longitudinal tracheoesophageal fold fuses to form a septum that divides the foregut into a ventral laryngotracheal tube and a dorsal esophagus. The posterior deviation of the tracheoesophageal septum causes incomplete separation of the esophagus from the laryngotracheal tube and results in a TEF. […] Incomplete formation of the esophagus is known as esophageal atresia, which may be associated with TEFs. Many anatomic variations of esophageal atresia with or without a TEF may occur. The most common anomaly consists of a blind esophageal pouch and a distal TEF. Pure esophageal atresia without a TEF is the second most common form. The third most common anomaly is the H-type fistula, which consists of a TEF without esophageal atresia.

• #9 Oesophageal atresia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-24

  An alternative theory suggests that atresia of the proximal oesophagus is the primary event and that the malformation results secondarily from the establishment of continuity between the trachea and the stomach/distal esophagus (tracheooesophageal fistula). […] The development of genetic models of tracheooesophageal malformations has provided an insight into the molecular mechanisms that underlie these defects. […] In sporadic cases of oesophageal atresia, the likely cause is an insult that occurs during the narrow gestational window of tracheooesophageal organogenesis; this is the basis of the Adriamycin animal models. […] The presence of associated malformations could provide clues as to the possible aetiology of oesophageal atresia. […] The motility of the oesophagus is always affected in oesophageal atresia. […] The trachea is also abnormal in oesophageal atresia. The abnormality consists of an absolute deficiency of tracheal cartilage and an increase in the length of the transverse muscle in the posterior tracheal wall.

• #10 Oesophageal atresia, tracheo‐oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2564549/

  Oesophageal atresia and/or tracheooesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. […] The aetiology of OA/TOF is unknown in the majority of cases. […] These data do not indicate a major role for genetic factors in the pathogenesis of OA/TOF, yet there are well-defined instances of the condition where genetic factors are clearly important. […] Until recently, no genes had been associated with oesophageal atresia in humans. However, three separate genes associated with syndromic OA/TOF in humans have now been identified, making this an exciting time for those interested in the aetiology of this malformation. […] The recent identification of three separate genes with a role in the genesis of OA/TOF is exciting for those interested in understanding the aetiology of this malformation, and for those who provide genetic counselling.

• #11 Esophageal atresia/tracheoesophageal fistula: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/

  Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. […] Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. […] Approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the CHD7 gene, have EA/TEF. […] About 25 percent of individuals with the chromosomal abnormality trisomy 18 are born with EA/TEF. […] EA/TEF also occurs in VACTERL association, a multifactorial condition. […] When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.

• #12 Esophageal atresia – Wikipedia

  https://en.wikipedia.org/wiki/Esophageal_atresia

  The genetic causes of EA/TEF include chromosome anomalies or variants in genes involved in critical developmental processes which are dosage sensitive. Several EA/TEF risk genes have been discovered include the transcriptional regulators SOX2, MYCN, CHD7, FANCB, and members of FOX transcription factor family. […] Others plausible candidate genes in the etiology of EA/TEF were identified as APC2, AMER3, PCDH1, GTF3C1, POLR2B, RAB3GAP2, and ITSN1. […] This birth defect arises in the fourth fetal week, when the trachea and esophagus should begin to separate from each other. […] It can be associated with disorders of the tracheoesophageal septum. […] Congenital esophageal atresia (EA) represents a failure of the esophagus to develop as a continuous passage. Instead, it ends as a blind pouch. Tracheoesophageal fistula (TEF) represents an abnormal opening between the trachea and esophagus. EA and TEF can occur separately or together. EA and TEF are diagnosed in the ICU at birth and treated immediately.

• #13 Esophageal atresia/tracheoesophageal fistula: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/

  Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. […] Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. […] Approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the CHD7 gene, have EA/TEF. […] About 25 percent of individuals with the chromosomal abnormality trisomy 18 are born with EA/TEF. […] EA/TEF also occurs in VACTERL association, a multifactorial condition. […] When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.

• #14 Esophageal Atresia: Causes, Symptoms, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/21178-esophageal-atresia

  Researchers aren’t sure what the specific causes are, but they suspect genetic and environmental factors are involved. Genetic mutations are changes to your baby’s DNA that affect the way your baby develops. Mutations can be random or partly inherited. Environmental factors, like substances and stress, can make mutations more likely. […] EA also commonly occurs with other congenital malformations and genetic syndromes. If a fetus was diagnosed with one of these conditions before birth, there’s a higher chance it may be born with esophageal atresia, as well. Some of the other birth defects and syndromes commonly associated with EA include: Trisomy (13, 18 or 21), VACTERL association, CHARGE syndrome, Congenital heart disease, especially ventricular septal defects, patent ductus arteriosus and tetralogy of Fallot.

• #15 Oesophageal atresia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-24

  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. […] 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 mechanism that underlie tracheooesophageal malformations are still unclear, however, the development of reproducible animal models of these anomalies has allowed detailed analysis of the various stages of faulty organogenesis. […] One theory postulates that the trachea becomes a separate organ as a result of rapid longitudinal growth of the respiratory primordium away from the foregut.

• #16 Esophageal Atresia With or Without Tracheoesophageal Fistula: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/935858-overview

  Most authorities believe that the development of esophageal atresia has a nongenetic basis. Debate about the embryopathologic process of this condition continues, and little about it is known. […] In 2001, Orford et al postulated that the ectopic, ventrally displaced location of the notochord in an embryo at 21 days’ gestation can lead to a disruption of the gene locus, sonic hedgehog-signaled apoptosis in the developing foregut, and variants of esophageal atresia. […] In 2003, Spilde et al reported esophageal atresia-TEF formations in the embryos of rat models of doxorubicin-induced teratogenesis. Specific absences of certain fibroblast growth factor (FGF) elements have been reported, specifically FGF1 and the IIIb splice variant of the FGF2R receptor. These specific FGF-signaling absences are postulated to allow the nonbranching development of the fistulous tract from the foregut, which then establishes continuity with the developing stomach.

• #17 Esophageal Atresia With or Without Tracheoesophageal Fistula: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/935858-overview

  Most authorities believe that the development of esophageal atresia has a nongenetic basis. Debate about the embryopathologic process of this condition continues, and little about it is known. […] In 2001, Orford et al postulated that the ectopic, ventrally displaced location of the notochord in an embryo at 21 days’ gestation can lead to a disruption of the gene locus, sonic hedgehog-signaled apoptosis in the developing foregut, and variants of esophageal atresia. […] In 2003, Spilde et al reported esophageal atresia-TEF formations in the embryos of rat models of doxorubicin-induced teratogenesis. Specific absences of certain fibroblast growth factor (FGF) elements have been reported, specifically FGF1 and the IIIb splice variant of the FGF2R receptor. These specific FGF-signaling absences are postulated to allow the nonbranching development of the fistulous tract from the foregut, which then establishes continuity with the developing stomach.

• #18 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0215/p910.html

  A recent experimental animal model, wherein prenatal exposure to adriamycin leads to esophageal atresia and tracheoesophageal fistula, may increase our understanding of the embryogenesis of these malformations. […] Esophageal atresia is characterized by incomplete formation of the esophagus. It is often associated with a fistula between the trachea and the esophagus. […] The proximal esophageal pouch is often hypertrophied and dilated secondary to the fetus’ efforts to swallow amniotic fluid. […] The second most common anomaly is pure atresia without tracheoesophageal fistula. […] The third most common variation is the H-type fistula, which consists of a tracheoesophageal fistula without esophageal atresia. […] Approximately one half of patients with surgically corrected esophageal atresia develop gastroesophageal reflux disease (GERD). […] For these reasons, some authors advocate long-term endoscopic follow-up in these patients.

• #19 Oesophageal atresia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-24

  An alternative theory suggests that atresia of the proximal oesophagus is the primary event and that the malformation results secondarily from the establishment of continuity between the trachea and the stomach/distal esophagus (tracheooesophageal fistula). […] The development of genetic models of tracheooesophageal malformations has provided an insight into the molecular mechanisms that underlie these defects. […] In sporadic cases of oesophageal atresia, the likely cause is an insult that occurs during the narrow gestational window of tracheooesophageal organogenesis; this is the basis of the Adriamycin animal models. […] The presence of associated malformations could provide clues as to the possible aetiology of oesophageal atresia. […] The motility of the oesophagus is always affected in oesophageal atresia. […] The trachea is also abnormal in oesophageal atresia. The abnormality consists of an absolute deficiency of tracheal cartilage and an increase in the length of the transverse muscle in the posterior tracheal wall.

• #20 Esophageal Atresia With or Without Tracheoesophageal Fistula: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/935858-overview

  Most authorities believe that the development of esophageal atresia has a nongenetic basis. Debate about the embryopathologic process of this condition continues, and little about it is known. […] In 2001, Orford et al postulated that the ectopic, ventrally displaced location of the notochord in an embryo at 21 days’ gestation can lead to a disruption of the gene locus, sonic hedgehog-signaled apoptosis in the developing foregut, and variants of esophageal atresia. […] In 2003, Spilde et al reported esophageal atresia-TEF formations in the embryos of rat models of doxorubicin-induced teratogenesis. Specific absences of certain fibroblast growth factor (FGF) elements have been reported, specifically FGF1 and the IIIb splice variant of the FGF2R receptor. These specific FGF-signaling absences are postulated to allow the nonbranching development of the fistulous tract from the foregut, which then establishes continuity with the developing stomach.

• #21 Esophageal Atresia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560848/

  The trachea and esophagus arise from a separation of a common foregut tube during early fetal development. Failure of separation or complete development of this foregut tube can lead to tracheoesophageal fistula (TEF) and esophageal atresia (EA). […] The etiology of esophageal atresia with or without an associated tracheoesophageal fistula is the failure of separation or incomplete development of the foregut. The fistula tract derives from a branch of the embryonic lung bud that fails to undergo branching because of defective epithelial-mesenchymal interactions. […] TEF and EA result from the defective lateral separation of foregut into the esophagus and trachea. A fistula tract between the esophagus and the trachea is possibly formed secondary to a defect in epithelial-mesenchymal interactions. TEF and EA are present together in about 90 percent of cases. EA and TEF are classified into 5 categories (types A-E) based on anatomical configuration.

• #22 Tracheoesophageal Fistula: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/186735-overview

  Approximately 17-70% of children with tracheoesophageal fistulas (TEFs) have associated developmental anomalies. […] Knowledge of embryology is essential to understand the pathogenesis of congenital TEFs. […] The esophagus and trachea both develop from the primitive foregut. In a 4- to 6-week-old embryo, the caudal part of the foregut forms a ventral diverticulum that evolves into the trachea. The longitudinal tracheoesophageal fold fuses to form a septum that divides the foregut into a ventral laryngotracheal tube and a dorsal esophagus. The posterior deviation of the tracheoesophageal septum causes incomplete separation of the esophagus from the laryngotracheal tube and results in a TEF. […] Incomplete formation of the esophagus is known as esophageal atresia, which may be associated with TEFs. Many anatomic variations of esophageal atresia with or without a TEF may occur. The most common anomaly consists of a blind esophageal pouch and a distal TEF. Pure esophageal atresia without a TEF is the second most common form. The third most common anomaly is the H-type fistula, which consists of a TEF without esophageal atresia.

• #23 Esophageal Atresia – Pediatrics – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/pediatrics/congenital-gastrointestinal-anomalies/esophageal-atresia

  Esophageal atresia is incomplete formation of the esophagus, frequently associated with tracheoesophageal fistula. […] There are 5 major types of esophageal atresia. Most of the types also involve a fistula between the trachea and esophagus. […] Characteristic signs are excessive secretions, coughing and cyanosis after attempts at feeding, and aspiration pneumonia. Esophageal atresia with a distal fistula leads to abdominal distention because, as the infant cries, air from the trachea is forced through the fistula into the lower esophagus and stomach. […] When the infants condition is stable, extrapleural surgical repair of the esophageal atresia and closure of the tracheoesophageal fistula can be done. […] The most common acute complications are leakage at the anastomosis site and stricture formation. Feeding difficulties are common after successful surgical repair because of poor motility of the distal esophageal segment, which occurs in up to 85% of cases. This poor motility predisposes the infant to gastroesophageal reflux, which occurs in up to 50% of children, as well as dysphagia. […] There are 5 types of esophageal atresia; all but one also involve a tracheoesophageal fistula.

• #24 Esophageal atresia and tracheoesophageal fistula – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/760

  Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are congenital malformations that result from the defective separation of the common embryonic precursor to both the esophagus and trachea. The most common type is a blind-ending upper esophageal pouch with a fistulous connection between the distal esophageal segment and the trachea. […] Surgical intervention is required as a newborn. While repair is traditionally done via an open thoracotomy, thoracoscopic repair is safe and effective. […] Patients may have long-term complications, such as GERD, tracheomalacia, and chronic respiratory infections.

• #25 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0215/p910.html

  A recent experimental animal model, wherein prenatal exposure to adriamycin leads to esophageal atresia and tracheoesophageal fistula, may increase our understanding of the embryogenesis of these malformations. […] Esophageal atresia is characterized by incomplete formation of the esophagus. It is often associated with a fistula between the trachea and the esophagus. […] The proximal esophageal pouch is often hypertrophied and dilated secondary to the fetus’ efforts to swallow amniotic fluid. […] The second most common anomaly is pure atresia without tracheoesophageal fistula. […] The third most common variation is the H-type fistula, which consists of a tracheoesophageal fistula without esophageal atresia. […] Approximately one half of patients with surgically corrected esophageal atresia develop gastroesophageal reflux disease (GERD). […] For these reasons, some authors advocate long-term endoscopic follow-up in these patients.

• #26 Esophageal Atresia and Tracheoesophageal Fistula – OpenAnesthesia

  https://www.openanesthesia.org/keywords/esophageal-atresia-and-tracheoesophageal-fistula/

  The most common presentation of esophageal atresia (EA) and tracheoesophageal fistula (TEF) is a proximal blind esophageal pouch and a distal TEF. […] EA includes a group of congenital anomalies characterized by an interruption of the continuity of the esophagus, with or without a TEF, which is an abnormal communication between the esophagus and the trachea. […] Several classification systems, such as the Vogt and Gross classifications, have been used to describe the anatomical variations. The most common presentation in 80-85% of patients is EA with a blind esophageal pouch with a distal TEF (Gross type C, Vogt 3B). […] Maintaining adequate oxygenation and ventilation during surgical repair can be challenging, and typically, the tip of the endotracheal tube (ETT) is positioned between the TEF and the carina.

• #27 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0215/p910.html

  A recent experimental animal model, wherein prenatal exposure to adriamycin leads to esophageal atresia and tracheoesophageal fistula, may increase our understanding of the embryogenesis of these malformations. […] Esophageal atresia is characterized by incomplete formation of the esophagus. It is often associated with a fistula between the trachea and the esophagus. […] The proximal esophageal pouch is often hypertrophied and dilated secondary to the fetus’ efforts to swallow amniotic fluid. […] The second most common anomaly is pure atresia without tracheoesophageal fistula. […] The third most common variation is the H-type fistula, which consists of a tracheoesophageal fistula without esophageal atresia. […] Approximately one half of patients with surgically corrected esophageal atresia develop gastroesophageal reflux disease (GERD). […] For these reasons, some authors advocate long-term endoscopic follow-up in these patients.

• #28 Oesophageal atresia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-24

  An alternative theory suggests that atresia of the proximal oesophagus is the primary event and that the malformation results secondarily from the establishment of continuity between the trachea and the stomach/distal esophagus (tracheooesophageal fistula). […] The development of genetic models of tracheooesophageal malformations has provided an insight into the molecular mechanisms that underlie these defects. […] In sporadic cases of oesophageal atresia, the likely cause is an insult that occurs during the narrow gestational window of tracheooesophageal organogenesis; this is the basis of the Adriamycin animal models. […] The presence of associated malformations could provide clues as to the possible aetiology of oesophageal atresia. […] The motility of the oesophagus is always affected in oesophageal atresia. […] The trachea is also abnormal in oesophageal atresia. The abnormality consists of an absolute deficiency of tracheal cartilage and an increase in the length of the transverse muscle in the posterior tracheal wall.

• #29 Esophageal Atresia With or Without Tracheoesophageal Fistula: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/935858-overview

  Esophageal atresia refers to a congenitally interrupted esophagus. One or more fistulae may be present between the anomalous esophagus and the trachea. The lack of esophageal patency prevents swallowing. […] A fetus with esophageal atresia cannot effectively swallow amniotic fluid, especially when TEF is absent. In a fetus with esophageal atresia and a distal TEF, some amniotic fluid presumably flows through the trachea and down the fistula to the gut. […] The trachea is also affected by the disordered embryogenesis in esophageal atresia. The membranous part of the trachea, the pars membranacea, is often wide and imparts a cross-sectional D shape to the trachea, as opposed to the usual C shape. These changes cause secondary anteroposterior structural weakening of the trachea, or tracheomalacia.

• #30 After your child has had oesophageal atresia and/or tracheo-oesophageal fistula repair | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/procedures-and-treatments/after-your-child-has-had-oesophageal-atresia-andor-tracheo-oesophageal-fistula-repair/

  This is a condition where the trachea is floppy and collapses in on itself when breathing. This is common in children who have had OA/TOF repair as there are accompanying problems with how the trachea formed in the womb. […] Children who have had OA/TOF repair can develop a distinctive cough, often referred to as a TOF cough. The distinctive sound is caused by coughing through the floppy section of the trachea. […] Narrowing can happen when scars or strictures develop following surgery to the oesophagus. This is common after all types of digestive system surgery, but especially following OA/TOF repair at the area where the atresia was opened and joined to the rest of the oesophagus.

• #31 Oesophageal atresia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-24

  An alternative theory suggests that atresia of the proximal oesophagus is the primary event and that the malformation results secondarily from the establishment of continuity between the trachea and the stomach/distal esophagus (tracheooesophageal fistula). […] The development of genetic models of tracheooesophageal malformations has provided an insight into the molecular mechanisms that underlie these defects. […] In sporadic cases of oesophageal atresia, the likely cause is an insult that occurs during the narrow gestational window of tracheooesophageal organogenesis; this is the basis of the Adriamycin animal models. […] The presence of associated malformations could provide clues as to the possible aetiology of oesophageal atresia. […] The motility of the oesophagus is always affected in oesophageal atresia. […] The trachea is also abnormal in oesophageal atresia. The abnormality consists of an absolute deficiency of tracheal cartilage and an increase in the length of the transverse muscle in the posterior tracheal wall.

• #32 Oesophageal atresia with tracheo-oesophageal fistula | Pathology Learning Centre

  https://health.uct.ac.za/pathology-learning-centre/disease-themes-when-things-go-wrong-congenital-anomalies/oesophageal-atresia-tracheo-oesophageal-fistula

  Oesophageal atresia is the absence of an oesophageal segment and is often associated with tracheo-oesophageal fistula. […] Tracheo-oesophageal fistula is an abnormal connection between the trachea and oesophagus. […] A disruption of this normal partitioning might explain oesophageal atresia and tracheo-oesophageal fistula, but other mechanisms have also been put forward. […] There is also abnormal development of the related neural plexuses and surrounding tissues, which contribute to the structural and functional defects of the trachea and oesophagus in these patients even following repair.

• #33 Tracheoesophageal Fistula: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/186735-overview

  Approximately 17-70% of children with tracheoesophageal fistulas (TEFs) have associated developmental anomalies. […] Knowledge of embryology is essential to understand the pathogenesis of congenital TEFs. […] The esophagus and trachea both develop from the primitive foregut. In a 4- to 6-week-old embryo, the caudal part of the foregut forms a ventral diverticulum that evolves into the trachea. The longitudinal tracheoesophageal fold fuses to form a septum that divides the foregut into a ventral laryngotracheal tube and a dorsal esophagus. The posterior deviation of the tracheoesophageal septum causes incomplete separation of the esophagus from the laryngotracheal tube and results in a TEF. […] Incomplete formation of the esophagus is known as esophageal atresia, which may be associated with TEFs. Many anatomic variations of esophageal atresia with or without a TEF may occur. The most common anomaly consists of a blind esophageal pouch and a distal TEF. Pure esophageal atresia without a TEF is the second most common form. The third most common anomaly is the H-type fistula, which consists of a TEF without esophageal atresia.

• #34

  https://link.springer.com/article/10.1007/s11894-010-0108-1

  Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. […] The pathologic mechanism leading to EA/TEF is unknown. […] EA/TEF is thought to be a multifactorial complex disease, with involvement of genetic and environmental factors. […] More than 50% of EA/TEF patients have associated anomalies. […] The foregut-related anomalies, such as laryngeal clefts and lobulation defects of the lungs, form a phenotypic link between human Pallister-Hall patients and the combined knockout mice for Gli2/Gli3. […] Many genetic pathways have been implicated in the development of EA/TEF. […] There is a substantial gap in our knowledge of how environmental factors combined with genetic factors would disrupt foregut development.

• #35 Esophageal atresia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/esophageal-atresia/

  Esophageal atresia and tracheoesophageal fistula are caused by a defect in mesodermal differentiation. […] A wedge of mesoderm called the tracheoesophageal septum separates the developing foregut (esophagus) from the trachea. […] About 50% of cases are associated with other mesodermal defects (VACTERL association).

• #36 Esophageal atresia/tracheoesophageal fistula: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/

  Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. […] Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. […] Approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the CHD7 gene, have EA/TEF. […] About 25 percent of individuals with the chromosomal abnormality trisomy 18 are born with EA/TEF. […] EA/TEF also occurs in VACTERL association, a multifactorial condition. […] When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.

• #37 Esophageal Atresia: Causes, Symptoms, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/21178-esophageal-atresia

  Researchers aren’t sure what the specific causes are, but they suspect genetic and environmental factors are involved. Genetic mutations are changes to your baby’s DNA that affect the way your baby develops. Mutations can be random or partly inherited. Environmental factors, like substances and stress, can make mutations more likely. […] EA also commonly occurs with other congenital malformations and genetic syndromes. If a fetus was diagnosed with one of these conditions before birth, there’s a higher chance it may be born with esophageal atresia, as well. Some of the other birth defects and syndromes commonly associated with EA include: Trisomy (13, 18 or 21), VACTERL association, CHARGE syndrome, Congenital heart disease, especially ventricular septal defects, patent ductus arteriosus and tetralogy of Fallot.

• #38 Esophageal Atresia and Tracheoesophageal Fistula – Children’s Health Issues – MSD Manual Consumer Version

  https://www.msdmanuals.com/home/children-s-health-issues/birth-defects-of-the-digestive-tract/esophageal-atresia-and-tracheoesophageal-fistula

  Esophageal atresia is a birth defect in which the esophagus narrows or comes to an end. Most newborns with esophageal atresia also have an abnormal connection between the esophagus and the windpipe (trachea) called tracheoesophageal fistula. […] In esophageal atresia, the esophagus narrows or comes to a blind end. It does not connect with the stomach as it normally should. A tracheoesophageal fistula is an abnormal connection between the esophagus and the trachea (which leads to the lungs). […] Doctors do not know what causes esophageal atresia and tracheoesophageal fistula, but many children with these birth defects have other abnormalities, such as defects of the spine, heart, kidneys, genitals, ears, and limbs and retardation of mental development, physical development, or both. […] Surgery needs to be done soon after birth to establish a normal connection between the esophagus and stomach and to close the fistula.

• #39 Esophageal Atresia: Causes, Symptoms, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/21178-esophageal-atresia

  Researchers aren’t sure what the specific causes are, but they suspect genetic and environmental factors are involved. Genetic mutations are changes to your baby’s DNA that affect the way your baby develops. Mutations can be random or partly inherited. Environmental factors, like substances and stress, can make mutations more likely. […] EA also commonly occurs with other congenital malformations and genetic syndromes. If a fetus was diagnosed with one of these conditions before birth, there’s a higher chance it may be born with esophageal atresia, as well. Some of the other birth defects and syndromes commonly associated with EA include: Trisomy (13, 18 or 21), VACTERL association, CHARGE syndrome, Congenital heart disease, especially ventricular septal defects, patent ductus arteriosus and tetralogy of Fallot.

• #40 Tracheal esophageal fistula and esophageal atresia | Children’s Wisconsin

  https://childrenswi.org/medical-care/fetal-concerns-center/conditions/infant-complications/tracheal-esophageal-fistula-and-esophageal-atresia

  Because of the high incidence of cardiac disorders associated with TEF/EA, a fetal echocardiogram may also be recommended. […] After birth, the inability to pass a tube into the stomach is cause to suspect TEF/EA. […] The baby will be stabilized and the defect will be evaluated before surgery is attempted. […] The repair may be primary, meaning the two ends of the esophagus are close enough that they can be reconnected. […] With true esophageal atresia with no fistulas, some may be a primary repair while others will be staged repair. […] The prognosis for survival for an isolated TEF/EA is excellent. […] The most significant causes of poor prognosis are complex cardiac anomaly and chromosomal abnormalities.

• #41 Esophageal atresia/tracheoesophageal fistula: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/

  Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). […] If this separation does not occur properly, EA/TEF is the result. […] In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. […] Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. […] While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. […] EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids.

• #42 Esophageal Atresia With or Without Tracheoesophageal Fistula: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/935858-overview

  Esophageal atresia refers to a congenitally interrupted esophagus. One or more fistulae may be present between the anomalous esophagus and the trachea. The lack of esophageal patency prevents swallowing. […] A fetus with esophageal atresia cannot effectively swallow amniotic fluid, especially when TEF is absent. In a fetus with esophageal atresia and a distal TEF, some amniotic fluid presumably flows through the trachea and down the fistula to the gut. […] The trachea is also affected by the disordered embryogenesis in esophageal atresia. The membranous part of the trachea, the pars membranacea, is often wide and imparts a cross-sectional D shape to the trachea, as opposed to the usual C shape. These changes cause secondary anteroposterior structural weakening of the trachea, or tracheomalacia.

• #43 Esophageal atresia & tracheo-esophageal fistula | PPT

  https://www.slideshare.net/slideshow/esophageal-atresia-tracheoesophageal-fistula/68172917

  A fetus with esophageal atresia cannot effectively swallow amniotic fluid. In a baby with esophageal atresia and a distal TEF, the lungs may be exposed to gastric secretions. Also, air from the trachea can pass down the distal fistula when the baby cries, strains, or receives ventilation. This condition can lead to over distension of abdomen which ultimately may cause acute gastric perforation, which is often lethal. […] Diagnosis of esophageal atresia is done during routine maternal Ultrasonography. Clinical Diagnosis includes excessive drooling and respiratory distress due to aspiration pneumonia. Diagnosis is confirmed when a 10-gauge (French) catheter cannot be passed beyond 10 cm from the gums. […] Management aims to prevent aspiration pneumonia and establish communication between proximal and distal end of esophagus. Surgical correction involves ligating the fistula, reconnecting the esophagus and occasionally using tissue grafts. Complications can include anastomotic leaks, strictures and gastroesophageal reflux. Early diagnosis and surgical repair improve prognosis.

• #44 Esophageal atresia & tracheo-esophageal fistula | PPT

  https://www.slideshare.net/slideshow/esophageal-atresia-tracheoesophageal-fistula/68172917

  A fetus with esophageal atresia cannot effectively swallow amniotic fluid. In a baby with esophageal atresia and a distal TEF, the lungs may be exposed to gastric secretions. Also, air from the trachea can pass down the distal fistula when the baby cries, strains, or receives ventilation. This condition can lead to over distension of abdomen which ultimately may cause acute gastric perforation, which is often lethal. […] Diagnosis of esophageal atresia is done during routine maternal Ultrasonography. Clinical Diagnosis includes excessive drooling and respiratory distress due to aspiration pneumonia. Diagnosis is confirmed when a 10-gauge (French) catheter cannot be passed beyond 10 cm from the gums. […] Management aims to prevent aspiration pneumonia and establish communication between proximal and distal end of esophagus. Surgical correction involves ligating the fistula, reconnecting the esophagus and occasionally using tissue grafts. Complications can include anastomotic leaks, strictures and gastroesophageal reflux. Early diagnosis and surgical repair improve prognosis.

• #45 Tracheo-oesophageal fistula and oesophageal atresia – Don’t Forget the Bubbles

  https://dontforgetthebubbles.com/tracheo-oesophageal-fistula-and-oesophageal-atresia/

  If a fistula exists between the trachea and distal oesophagus (types C-E), they may have prominent abdominal distension as large volumes of air enter the trachea, fistula and stomach during infant crying. This distension reduces the ability of the lungs to expand, leading to atelectasis and respiratory compromise. Additionally, reflux of gastric contents through the fistula may cause chemical pneumonitis and aspiration pneumonia, further compromising respiratory function. […] Oesophageal atresia is usually diagnosed when a nasogastric tube (NGT) cannot be passed further than approximately 9-11cm or a coiled NGT is seen in the upper pouch on a chest x-ray. […] The initial priorities include respiratory stabilization, decompressing the upper pouch to prevent aspiration, and planning surgical intervention.

• #46 Tracheo-oesophageal fistula and oesophageal atresia – Don’t Forget the Bubbles

  https://dontforgetthebubbles.com/tracheo-oesophageal-fistula-and-oesophageal-atresia/

  If a fistula exists between the trachea and distal oesophagus (types C-E), they may have prominent abdominal distension as large volumes of air enter the trachea, fistula and stomach during infant crying. This distension reduces the ability of the lungs to expand, leading to atelectasis and respiratory compromise. Additionally, reflux of gastric contents through the fistula may cause chemical pneumonitis and aspiration pneumonia, further compromising respiratory function. […] Oesophageal atresia is usually diagnosed when a nasogastric tube (NGT) cannot be passed further than approximately 9-11cm or a coiled NGT is seen in the upper pouch on a chest x-ray. […] The initial priorities include respiratory stabilization, decompressing the upper pouch to prevent aspiration, and planning surgical intervention.

• #47 The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia–tracheoesophageal fistula | Nature Reviews Gastroenterology & Hepatology

  https://www.nature.com/articles/s41575-023-00789-w

  Patients with EA-TEF are at risk of respiratory morbidity their entire lives. A large, Finish, community-based study of 588 adults with EA-TEF reported that the proportion of patients with a history of pneumonia, bronchitis, persistent cough and wheezing were 56%, 70%, 31% and 33%, respectively. Compared with healthy individuals, bronchitis, cough and reduced respiratory-related QOL were more common in patients with EA-TEF. Symptoms and lower respiratory tract infections (LRTI), although fairly common in adults, are more common in children. A key complication is bronchiectasis, which is present in a substantial number of children; adult data are lacking. […] Patients with EA-TEF have an increased disposition to direct and reflux-related aspiration, which can be silent or result in symptoms and respiratory complications. Some compensation and resolution occur with growth by adolescence and adulthood to a variable degree. Contributing factors include oesophageal dysfunction owing to dysmotility, GERD and delayed oesophageal clearance; post-surgical effects, including strictures, myenteric dysfunction, altered sensation, direct neural injury or traction of the recurrent laryngeal nerve; a recurrent fistula at the original repair site, a new lesion in a different location or a subtle communication missed during initial assessments; congenital or acquired co-existing gastrointestinal and/or airway pathology; and delayed oral-motor development and feeding difficulties that persist as adaptive and avoidant behaviours.

• #48 Esophageal atresia/tracheoesophageal fistula: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/

  Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). […] If this separation does not occur properly, EA/TEF is the result. […] In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. […] Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. […] While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. […] EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids.

• #49 Oesophageal atresia, tracheo‐oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2564549/

  It is clear that these new data present an opportunity for further teasing out the aetiological mechanisms in OA/TOF. […] The identification of new genes with a role in the pathogenesis of oesophageal atresia will help to stimulate further research in, and provide genetic counselling for, this distressing and still poorly understood malformation.

• #50 Esophageal Atresia and Tracheoesophageal Fistula | Texas Children’s

  https://www.texaschildrens.org/content/conditions/esophageal-atresia-and-tracheoesophageal-fistula

  Esophageal atresia and tracheoesophageal fistula are birth defects that affect the esophagus (food tube) and the trachea (windpipe), causing breathing and digestive problems at birth. The defects occur when these tubes don’t form properly during fetal development. […] The exact cause remains unknown. The defects occur when the esophagus and trachea, which begin as a single tube in early fetal development, don’t separate and form properly. […] Our researchers are continually working to better understand the abnormal fetal development that leads to EA/TEF and the genes that may play a role, in hopes that we may find the cause, improve patient care and outcomes, and ultimately prevent these defects.

• #51

  https://link.springer.com/article/10.1007/s11894-010-0108-1

  Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. […] The pathologic mechanism leading to EA/TEF is unknown. […] EA/TEF is thought to be a multifactorial complex disease, with involvement of genetic and environmental factors. […] More than 50% of EA/TEF patients have associated anomalies. […] The foregut-related anomalies, such as laryngeal clefts and lobulation defects of the lungs, form a phenotypic link between human Pallister-Hall patients and the combined knockout mice for Gli2/Gli3. […] Many genetic pathways have been implicated in the development of EA/TEF. […] There is a substantial gap in our knowledge of how environmental factors combined with genetic factors would disrupt foregut development.

• #52 Oesophageal atresia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-24

  An alternative theory suggests that atresia of the proximal oesophagus is the primary event and that the malformation results secondarily from the establishment of continuity between the trachea and the stomach/distal esophagus (tracheooesophageal fistula). […] The development of genetic models of tracheooesophageal malformations has provided an insight into the molecular mechanisms that underlie these defects. […] In sporadic cases of oesophageal atresia, the likely cause is an insult that occurs during the narrow gestational window of tracheooesophageal organogenesis; this is the basis of the Adriamycin animal models. […] The presence of associated malformations could provide clues as to the possible aetiology of oesophageal atresia. […] The motility of the oesophagus is always affected in oesophageal atresia. […] The trachea is also abnormal in oesophageal atresia. The abnormality consists of an absolute deficiency of tracheal cartilage and an increase in the length of the transverse muscle in the posterior tracheal wall.

• #53 The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia–tracheoesophageal fistula | Nature Reviews Gastroenterology & Hepatology

  https://www.nature.com/articles/s41575-023-00789-w

  Dramatic improvement in neonatal care and paediatric surgery has been observed over the past 20 years, enabling most patients with EA-TEF to survive through adulthood. EA-TEF is no more a paediatric disease but an adult disease with chronic problems. Severe complications that were not observed in the past because only a few patients reached adulthood are now a concern. The transition from adolescence to adult medicine is, therefore, a new challenge. Transition is a critical period where the risk of poor compliance and loss of follow-up is high. This risk should be anticipated, and a good transition requires training and preparation of the adolescent and family and a multidisciplinary team. This Consensus Statement will hopefully contribute to improved care and outcomes for adolescent and adult patients with EA-TEF.

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