Materiały źródłowe

• #1 Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2874026/

  Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. […] 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. In 6% to 10% of patients a defined genetic syndrome can be diagnosed, leaving 90% of patients of unknown etiology. […] Various environmental factors have been suggested as risk factors for the development of tracheoesophageal anomalies, including maternal exposure to methimazole, exogenous sex hormones, maternal alcohol and smoking, infectious diseases, and working in agriculture or horticulture. […] Administration of the anthracycline antibiotic adriamycin to pregnant rats causes EA/TEF and other major congenital anomalies in the offspring.

• #1 Tracheoesophageal Fistula and Esophageal Atresia Causes and Diagnoses | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/gastroenterology/tracheoesophageal-fistula/causes-and-diagnoses

  During a normal pregnancy, the trachea and the esophagus start forming as a single tube. Between the fourth and eighth weeks of pregnancy, a wall forms and separates them into two distinct tubes, one leading to the lungs and the other leading to the stomach. The exact reason why is not known, but in babies with tracheoesophageal fistula and esophageal atresia, the wall separating the two tubes does not form correctly. Experts do know that tracheoesophageal fistula and esophageal atresia are related to other birth defects. Your baby is more likely to have esophageal defects if he or she also has: […] TE fistula often happens with another birth defect called esophageal atresia. Both of these conditions require surgery to correct the problem.

• #1 Tracheoesophageal Fistula and Esophageal Atresia | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617262/all/Tracheoesophageal_Fistula_and_Esophageal_Atresia

  Esophageal atresia with tracheoesophageal fistula (EA-TEF) is a congenital condition of incomplete formation of the esophagus. In most cases, the atretic (blind-ending) esophagus has an aberrant fistula to the trachea (TEF). […] The foregut diverticulum separates into the trachea and esophagus by 5th week of gestation, thus, factors leading to EA-TEF are present prior to week 5. […] In EA-TEF, it is postulated that the lateral folds that fuse to separate the trachea and esophagus fail to form. […] Disruption of signalling in the Wnt and Bmp pathways has been implicated in this chain of development. This theory remains controversial, and the exact nature of the defect is unresolved.

• #1 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. The old His theory that lateral infoldings divide the foregut into the esophagus and trachea is attractively simple, but findings from human embryology studies do not support this theory. […] In 1984, O’Rahilly proposed that a fixed cephalad point of tracheoesophageal separation is present, with the tracheobronchial and esophageal elements elongating in a caudal direction from this point. This theory does not easily account for esophageal atresia but explains TEF as a deficiency or breakdown of esophageal mucosa, which occurs as the linear growth of the organ exceeds the cellular division of the esophageal epithelium.

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

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

  In a 1987 report, Kluth eschewed the concept that tracheoesophageal septation has a key role in the development of esophageal atresia. Instead, he based the embryopathologic process on the faulty development of the early, but already differentiated, trachea and esophagus, in which a dorsal fold comes to lie too far ventrally; thus, the early tracheoesophagus remains undivided. He also suggested that esophageal vascular events, ischemic events, or both may be causes in cases of esophageal atresia without fistula. […] 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. This situation may be due to various early gestation teratogenic influences such as twinning, toxin exposure, or possible abortion.

• #1 Esophageal atresia – Wikipedia

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

  Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. […] 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. […] 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.

• #1 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. […] Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. […] This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (NMYC), anophthalmiaoesophagealgenital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). […] Trisomies of chromosomes 18 and 21 are a significant risk factor for OA/TOF, and there are other examples of specific chromosomal imbalances, discussed below, which also predispose to this malformation.

• #1 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. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed esophagus. If a tracheoesophageal fistula (TEF) is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree. […] No human teratogens that cause esophageal atresia are known. Esophageal atresia that occurs in families has been reported. A 2% risk of recurrence is present when a sibling is affected. The occasional association of esophageal atresia with trisomies 21, 13, and 18 further suggests genetic causation. Also, twinning occurs about six times more frequently in patients with esophageal atresia than in those without the condition.

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

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

  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. […] Available epidemiological and family data do not point to a strong role for genetic factors in OA/TOF. […] The existence of familial forms of oesophageal atresia have been known for many years, and likewise ample data, reviewed above, indicate that chromosomal imbalances may predispose to its occurrence.

• #1 Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2874026/

  More than 50% of EA/TEF patients have associated anomalies. […] The department of Pediatric Surgery at the Erasmus MCSophia Childrens Hospital admitted more than 300 EA/TEF patients from 1988 to 2009. In 29 patients, a chromosomal abnormality or a single gene disorder was causative to the EA/TEF phenotype. […] More than 30% of EA/TEF cases in our cohort (syndromal cases excluded) were defined as VACTERL-associated. […] 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.

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

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

  Researchers arent sure what the specific causes are, but they suspect genetic and environmental factors are involved. Genetic mutations are changes to your babys 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. […] Researchers havent identified the specific environmental factors that may be involved in triggering esophageal atresia. But theyve observed certain commonalities among babies born with EA. These common factors arent direct causes, but they may indirectly raise the risk of EA.

• #1 Oesophageal atresia and tracheo-oesophageal fistula | nidirect

  https://www.nidirect.gov.uk/conditions/oesophageal-atresia-and-tracheo-oesophageal-fistula

  Oesophageal atresia is thought to be caused by a problem with the development of the oesophagus while the baby is in the womb. Although it’s not clear exactly why this happens. […] The condition is more common in babies of mothers who had too much amniotic fluid in pregnancy (polyhydramnios). […] It’s also more common in babies who have problems with the development of their kidneys, heart and spine.

• #1 Tracheoesophageal Fistula and Esophageal Atresia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/tef-and-ea/

  Tracheoesophageal Fistula (TEF) and Esophageal Atresia (EA) happen while a baby is growing during pregnancy. Most often, TEF and EA happen together. But sometimes a child has 1 condition and not the other. Each name refers to a specific problem. […] Doctors are not sure what causes these rare problems. They are present when a child is born (congenital). TEF and EA are not thought to be passed from parent to child (inherited). […] Some babies have other conditions that are linked to TEF and EA. The problems may affect a baby’s heart, kidneys, digestive tract or bones. Doctors call this the VACTERL association. […] About one-third of children born with TEF, EA or TEF/EA are born early. This may happen because babies with EA cannot swallow normal amounts of amniotic fluid and it builds up inside the mother’s womb.

• #1 Esophageal Atresia | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/about/esophageal-atresia.html

  Esophageal atresia is a birth defect of the esophagus, the swallowing tube that connects the mouth to the stomach. […] The causes of esophageal atresia among most infants are unknown. In some cases, esophageal atresia may occur because of abnormalities in the baby’s genes. However, in most cases, esophageal atresia is thought to be caused by a combination of genes and other factors. […] Research studies have also found some factors that may increase the risk of having a baby with esophageal atresia: Older paternal age; Use of assisted reproductive technology (ART) to become pregnant.

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

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

  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.

• #1 Esophageal Atresia and Tracheoesophageal Fistula (EA/TEF) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/esophageal-atresia-and-tracheoesophageal-fistula-eatef

  Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare conditions that develop before birth. They often occur together and affect the development of the esophagus (food pipe), trachea (windpipe) or both. These conditions can be life-threatening and must be treated shortly after birth. […] If the esophagus and trachea dont form correctly or divide completely, an esophageal atresia (EA) and/or tracheoesophageal fistula (TEF) can occur. While EA can appear alone, most forms of EA also include TEF. […] The direct cause of EA/TEF is not known. Research suggests there is a genetic component because around half of the babies born with EA or TEF are also born with other health concerns. […] Associated conditions EA/TEF have been linked to include: VACTERL association is a complex condition that babies are born with where several health concerns are often seen together that affect the vertebrae (spine), anus, heart (cardiac), trachea, esophagus, kidney (renal), and limbs.

• #1 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. […] In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. […] Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. […] For example, 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.

• #1 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

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

  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. […] Associated congenital anomalies are discovered in approximately one half of infants with esophageal atresia. […] Cardiac anomalies are encountered in approximately one quarter of these infants and account for approximately one third of all anomalies identified. […] Gastrointestinal anomalies, including imperforate anus, duodenal atresia and malrotation, make up one fourth of the identified defects and occur in approximately 16 percent of infants with esophageal atresia. […] The acronym VATER, or VACTERL, has been used to describe the condition of multiple anomalies in these infants.

• #1 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

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

  Isolated esophageal atresia is associated with a higher incidence of other malformations than esophageal atresia with tracheoesophageal fistula. […] The first sign of esophageal atresia in the fetus may be polyhydramnios in the mother. […] Clinically, the diagnosis of esophageal atresia sometimes requires a high degree of suspicion. […] If esophageal atresia is suspected, a radiopaque nasogastric or feeding tube should be passed through the nose to the stomach. […] Once a diagnosis of esophageal atresia is established, preparations should be made for surgical correction. […] Healthy infants without pulmonary complications or other major anomalies usually can undergo primary repair in the first few days of life. […] Surgical repair is delayed in infants with low birth weight, pneumonia or other major anomalies.

• #1 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. […] Other congenital malformations are present in up to 50% of cases. […] Two syndromes in particular are associated with esophageal atresia: VACTERL and CHARGE. […] 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. […] Prenatal ultrasonography may suggest esophageal atresia. […] Diagnosis of esophageal atresia is suggested by inability to pass the tube into the stomach. […] There are 5 types of esophageal atresia; all but one also involve a tracheoesophageal fistula.

• #1 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

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

  Most neonates who undergo repair of esophageal atresia and tracheoesophageal fistula have some degree of esophageal dysmotility. […] 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.

• #1 Trachea-Esophageal Birth Defects — CLEAR Consortium

  https://www.clearconsortium.org/families

  Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are the most commonly diagnosed birth defects related to the esophagus and trachea. […] These conditions occur when the trachea and esophagus do not fully separate during fetal development. […] EA causes the esophagus to not fully form, and as a result the esophagus does not connect to the stomach as it should. […] In some patients, a TEF can develop, which is an abnormal connection between the esophagus and trachea. […] It is not yet well understood how these birth defects happen. […] There is compelling evidence that suggests there is a genetic cause, but specific genetic mutations are only known for 12% of trachea-esophageal cases worldwide. […] The goal of the CLEAR Consortium is to better understand the genetic causes of trachea-esophageal birth defects.

• #2

  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. Current research efforts are focused on understanding the etiology of these defects. […] 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. In 6% to 10% of patients a defined genetic syndrome can be diagnosed, leaving 90% of patients of unknown etiology. […] Various environmental factors have been suggested as risk factors for the development of tracheoesophageal anomalies, including maternal exposure to methimazole, exogenous sex hormones, maternal alcohol and smoking, infectious diseases, and working in agriculture or horticulture. […] Administration of the anthracycline antibiotic adriamycin to pregnant rats causes EA/TEF and other major congenital anomalies in the offspring.

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

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

  Esophageal atresia is a birth defect (congenital malformation) that affects the way your babys esophagus develops. The esophagus is the swallowing tube that connects their mouth to their stomach. Atresia means that a passageway in the body is missing or closed. In esophageal atresia, the esophagus is closed at the bottom where its supposed to connect to your babys stomach. This makes it impossible for your baby to feed normally. […] Esophageal atresia is a congenital malformation, which means something forms differently during fetal development, leaving a defect thats present at birth. In typical fetal development, the esophagus and trachea begin as one tube, which later separates. Esophageal atresia (and often, tracheoesophageal fistula with it) occurs when this tube doesnt finish developing and separating. This is the main cause.

• #2 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. […] Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. […] This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (NMYC), anophthalmiaoesophagealgenital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). […] Trisomies of chromosomes 18 and 21 are a significant risk factor for OA/TOF, and there are other examples of specific chromosomal imbalances, discussed below, which also predispose to this malformation.

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

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

  In a 1987 report, Kluth eschewed the concept that tracheoesophageal septation has a key role in the development of esophageal atresia. Instead, he based the embryopathologic process on the faulty development of the early, but already differentiated, trachea and esophagus, in which a dorsal fold comes to lie too far ventrally; thus, the early tracheoesophagus remains undivided. He also suggested that esophageal vascular events, ischemic events, or both may be causes in cases of esophageal atresia without fistula. […] 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. This situation may be due to various early gestation teratogenic influences such as twinning, toxin exposure, or possible abortion.

• #2 Esophageal Atresia: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/digestive-diseases/esophageal-atresia

  What causes esophageal atresia are not known. In some instances, genetic abnormalities may cause or contribute to problems with the way the esophagus develops before birth. […] Two risk factors are known to increase the chances of a baby being born with this condition: […] The age of the father is over 40 at the time of conception. […] Infertility treatments, including intrauterine insemination (IUI) and in vitro fertilization (IVF) are used to conceive.

• #2 Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2874026/

  Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. […] 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. In 6% to 10% of patients a defined genetic syndrome can be diagnosed, leaving 90% of patients of unknown etiology. […] Various environmental factors have been suggested as risk factors for the development of tracheoesophageal anomalies, including maternal exposure to methimazole, exogenous sex hormones, maternal alcohol and smoking, infectious diseases, and working in agriculture or horticulture. […] Administration of the anthracycline antibiotic adriamycin to pregnant rats causes EA/TEF and other major congenital anomalies in the offspring.

• #2 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

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

  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. […] Esophageal atresia as an isolated congenital anomaly may occur, rarely. […] 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 most common variant of this anomaly consists of a blind esophageal pouch with a fistula between the trachea and the distal esophagus, which is estimated to occur 84 percent of the time.

• #2 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

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

  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. […] Associated congenital anomalies are discovered in approximately one half of infants with esophageal atresia. […] Cardiac anomalies are encountered in approximately one quarter of these infants and account for approximately one third of all anomalies identified. […] Gastrointestinal anomalies, including imperforate anus, duodenal atresia and malrotation, make up one fourth of the identified defects and occur in approximately 16 percent of infants with esophageal atresia. […] The acronym VATER, or VACTERL, has been used to describe the condition of multiple anomalies in these infants.

• #2 Esophageal Atresia > Fact Sheets > Yale Medicine

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

  Esophageal atresia is a congenital disorder in which a babys esophagus does not form properly during pregnancy. […] The exact causes of esophageal atresia and tracheoesophageal fistula are unknown. There could be a genetic component, but it is not necessarily inheritable. […] Up to half of all babies with esophageal atresia or tracheoesophageal fistula have at least one other birth defect, and often several. […] Both esophageal atresia and tracheoesophageal fistula are also commonly found in babies with VACTERL association. The acronym stands vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb abnormalities. Those with VACTERL typically have at least three of these conditions.

• #2 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. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed esophagus. If a tracheoesophageal fistula (TEF) is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree. […] No human teratogens that cause esophageal atresia are known. Esophageal atresia that occurs in families has been reported. A 2% risk of recurrence is present when a sibling is affected. The occasional association of esophageal atresia with trisomies 21, 13, and 18 further suggests genetic causation. Also, twinning occurs about six times more frequently in patients with esophageal atresia than in those without the condition.

• #2 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. […] While EA and TEF may present as isolated anomalies, they often present together with an incidence ranging from 1:2500 to 1:4000 births. […] About 20-30% of these patients are born prematurely, and 50% of the patients have additional congenital defects: congenital heart disease: 30% (ventricular septal defect, atrial septal defect, tetralogy of Fallot, atrioventricular canal, and coarctation of the aorta); genitourinary disorders: 14% (gastrointestinal disorders), 13% (duodenal atresia, imperforate anus, malrotation), skeletal anomalies (10%) and respiratory (6%).

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

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

  5% of cases (usually an isolated OA) have a long gap OA the two oesophageal ends are spaced too far apart (over 4cm) to achieve a successful primary anastomosis. […] Currently, emergency transpleural ligation of TOF (but not division) is recommended, with the aim of re-operating in 8-10 days to divide the fistula and repair the atresia. […] An early leak (within 48 hours) is suspected through a new pleural effusion, pneumothorax, or sepsis and requires immediate exploration in the operating theatre. […] Gastroesophageal reflux (GOR) can manifest due to impaired oesophageal motility and anatomical changes of the gastroesophageal junction following TOF/OA surgery. […] Dysmotility can result from surgical repair and abnormal innervation, mainly affecting the distal oesophageal segment at birth.

• #2 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. […] In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. […] Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. […] For example, 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.

• #2 Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2874026/

  More than 50% of EA/TEF patients have associated anomalies. […] The department of Pediatric Surgery at the Erasmus MCSophia Childrens Hospital admitted more than 300 EA/TEF patients from 1988 to 2009. In 29 patients, a chromosomal abnormality or a single gene disorder was causative to the EA/TEF phenotype. […] More than 30% of EA/TEF cases in our cohort (syndromal cases excluded) were defined as VACTERL-associated. […] 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.

• #3 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. […] In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. […] Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. […] For example, 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.

• #3 Tracheoesophageal Fistula (TEF) and Esophageal Atresia (EA) – Children’s Hospital of Orange County

  https://choc.org/programs-services/pediatric-general-surgery/tracheoesophageal-fistula-esophageal-atresia/

  Fetal Consultations […] What causes TE fistula and esophageal atresia? As a baby is growing in pregnancy, organ systems are forming. In all babies, the trachea and the esophagus start forming as one tube. At 4 to 8 weeks of pregnancy, a wall forms between the esophagus and trachea. This separates them into two tubes. TE fistula and esophageal atresia happen when this wall doesn’t form as it should. […] Having the following factors can raise a baby’s risk for these issues: Trisomy 13, 18 or 21, Other digestive tract problems. These include duodenal atresia or imperforate anus, Diaphragmatic hernia, Heart problems. These include ventricular septal defect, tetralogy of Fallot or patent ductus arteriosus, Kidney and urinary tract problems. These include a horseshoe or polycystic kidney, absent kidney or hypospadias, Muscular or skeletal problems, VACTERL syndrome. This problem involves spinal, anal, heart, TE fistula, kidney and limb issues. […] Up to one half of babies with TE fistula or esophageal atresia also have another birth defect. If your doctor diagnoses TE fistula or esophageal atresia, additional tests of the heart, spine, kidneys, anus, rectum and limbs may be recommended.

• #3 Esophageal Atresia and Tracheoesophageal Fistula | AAFP

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

  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. […] Associated congenital anomalies are discovered in approximately one half of infants with esophageal atresia. […] Cardiac anomalies are encountered in approximately one quarter of these infants and account for approximately one third of all anomalies identified. […] Gastrointestinal anomalies, including imperforate anus, duodenal atresia and malrotation, make up one fourth of the identified defects and occur in approximately 16 percent of infants with esophageal atresia. […] The acronym VATER, or VACTERL, has been used to describe the condition of multiple anomalies in these infants.

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

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

  Tracheomalacia (15% cases), a floppy trachea, can present due to lack of cartilage development and cause stridulous noises, a harsh brassy barking TOF cough, reduced sputum clearance and breathing difficulties. […] The survival rate for stable infants with TOF/OA nowadays exceeds 90% owing to earlier diagnosis, advances in neonatal anaesthesia and perioperative care, advanced ICU management, and early treatment of surgery.

• #4 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

  A blind pouch of the esophagus with a fistula from the lower esophageal segment connecting with the trachea; this is the most common type and accounts for 86 percent of cases. […] For an unknown reason, sometimes the wall does not form properly and a tracheal esophageal fistula and/or esophageal atresia may be the result. […] We do not know the cause of TEF/EA but it is thought to occur around the fourth week of pregnancy as the various systems are developing. […] Occasionally there will be a clustering of birth defects along with the TEF/EA, but no genetic association has been found. […] TEF/EA may be suspected if no stomach bubble is seen in the fetus and there is polyhydramnios. […] When TEF/EA is suspected before birth, it is recommended that chromosomes be evaluated as TEF/EA can be associated with Trisomy 21 (Down syndrome). […] Because of the high incidence of cardiac disorders associated with TEF/EA, a fetal echocardiogram may also be recommended. […] The most significant causes of poor prognosis are complex cardiac anomaly and chromosomal abnormalities.

• #4 Tracheoesophageal fistula after esophageal atresia repair: recurrent, missed or acquired – Boybeyi-Turer – Current Challenges in Thoracic Surgery

  https://ccts.amegroups.org/article/view/45919/html

  Esophageal atresia (EA) is a common congenital anomaly of pediatric surgical practice. Tracheoesophageal fistula (TEF) is defined as congenital fistulous connection between esophagus and airway. All newborns with EA need immediate surgical repair of this anomaly. […] The main complications of EA repair are classified as early complications including anastomotic leak, stricture, recurrent TEF (recTEF) and late complications including gastroesophageal reflux, esophageal dysmotility, tracheomalacia and respiratory disorders. TEFs seen after EA repair are the most challenging complication for both patient and the surgeon. These fistulas can occur after EA repair because of the recanalization of ligated original TEF called recTEF, a de novo fistula with different location called acquired TEF (acqTEF) or a second congenital fistula missed at the primary surgery called missed TEF (mTEF). Overall, incidence of fistula recurrence is between 510%. The well-described risk factors for TEF recurrences are inadequate ligation of original TEF, anastomotic complications including leak, stricture and ischemia, tracheal injuries at the primary repair, and juxtapositioning of esophageal and tracheal suture lines.

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