Vascular Anomalies Associated with Esophageal Atresia and Tracheoesophageal Fistula

Berthet, S.; Tenisch, Estelle; Miron, Marie Claude; Alami, N.; Timmons, J.; Aspirot, Ann; Fauré, Christophe

doi:10.1016/j.jpeds.2015.01.038

Cited by 39 publications

(34 citation statements)

References 26 publications

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“…It is known that ARSA is more common in patients with EA, with estimated prevalence of 25% in patients with long-gap EA and in 12% of patients with any type of EA. 1,2 Although typically asymptomatic, ARSA can produce symptoms by compression of adjacent structures resulting in dysphagia or respiratory symptoms. In the pediatric population, respiratory symptoms are thought to be more common, presumably due to the malleability of the trachea.…”

Section: Discussionmentioning

confidence: 99%

“…Aberrant right subclavian artery (ARSA), the most common aortic arch abnormality, occurs in approximately 0.5 to 1.8% of the general population, with a prevalence of up to 25% in those with esophageal atresia (EA). 1,2 Although ARSA is often asymptomatic, a fistulous tract into esophagus may form with prolonged nasogastric tube placement or endotracheal intubation, leading to potentially fatal hematemesis. 3 We present the first case to the best of our knowledge of ARSA-esophageal fistula in a patient with the VATER association but without an esophageal anomaly.…”

Section: Introductionmentioning

confidence: 99%

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Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association

Kudose

Pineda

Saito

et al. 2016

J Pediatr Intensive Care

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Aberrant right subclavian artery (ARSA), the most common aortic arch abnormality, occurs in approximately 0.5 to 1.8% of the general population, with prevalence of up to 25% in those with esophageal atresia. Although ARSA is often asymptomatic, a fistulous tract into esophagus may develop with prolonged nasogastric tube placement or endotracheal intubation and lead to potentially fatal hematemesis. We present a first case of ARSA-esophageal fistula in a 20-year-old woman with VATER association in the absence of an esophageal anomaly and review 28 cases of ARSA-esophageal fistula reported in the literature to date. Requiring nasogastric and endotracheal tube placement for approximately 4 months, the patient had a prolonged hospital course and died after sudden hematemesis. An autopsy demonstrated an ARSA-esophageal fistula and no other source of upper gastrointestinal bleeding. In patients with esophageal atresia requiring prolonged placement of an endotracheal or nasogastric tube, a screening imaging study and corrective surgery may be indicated. Although the mortality rate is still high, timely recognition and repair of ARSA-esophageal fistula appear to be improving. Given the potentially prolonged latency for its development with occasional presence of heralding symptoms, increased awareness may facilitate surgical intervention to prevent a catastrophic exsanguination.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association

Kudose

Pineda

Saito

et al. 2016

J Pediatr Intensive Care

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“…For this retrospective study, we selected patients with complex EA/TEF, namely those having at least one associated anomaly, with the exclusion of patients with only minor cardiac anomalies, such as the frequently associated right aortic arch and aberrant right subclavian artery [Berthet et al, 2015], since genetic testing was usually not performed in these cases or in cases of completely isolated EA. A total of 45 patients, mainly Caucasian French-Canadian individuals, were included.…”

Section: Methodsmentioning

confidence: 99%

Genetic Testing in a Cohort of Complex Esophageal Atresia

et al. 2017

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The objective of the present study is to describe a cohort of complex esophageal atresia and the yield of genetic tests performed for such patients. We selected 45 patients with complex esophageal atresia (EA), namely those having at least one associated anomaly. We reviewed their medical records to assess clinical features, other diagnoses, and genetic investigations. Most of the patients had a diagnosis of VACTERL association (56%) with no genetic variant identified. Interestingly, 5 patients in the cohort (11%) had a right pulmonary hypoplasia or agenesis. A majority of our cohort (73%) had genetic testing; 60% were karyotyped (abnormal in 4 of the 27 patients tested), 31% had aCGH (abnormal in 1 of the 14 patients tested), and 31% had diepoxybutane (DEB) testing for Fanconi anemia (abnormal in 2 of the 14 patients tested). One patient had exome sequencing studies, but no candidate gene was identified. Various anomalies were associated with EA, and overall a genetic variant could be identified in 7 of the 33 patients tested. Chromosomal studies such as aCGH and chromosomal breakage studies should be considered, and their yield varied between 7 and 14%. Other genetic investigations such as exome sequencing could possibly have even higher yields but will need to be assessed in a large cohort. Improved genetic diagnoses in EA may improve the management of these patients by directing specific surveillance and management schemes.

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“…Recent studies suggesting that laryngeal clefts and vocal cord paresis or paralysis are common in patients with EA/TEF indicate that careful otolaryngologic evaluation of the upper airway should be performed in EA/TEF patients suspected as having aspiration (5, 7). As thoracic vascular malformations may also compromise esophageal function in EA/TEF patients, complete cardiac evaluation of thoracic vessels should also be considered (8). A recurrent or persistent TEF is most often diagnosed by UGI with pull-back study.…”

Section: Determining the Source Of Aspirationmentioning

confidence: 99%

“…Vocal cord paresis or paralysis may be, in at least some cases related to EA/TEF corrective surgery (7). Thoracic large vessel malformations such as aberrant right subclavian artery also appear to be abnormally common in EA/TEF patients, and may worsen tracheal and esophageal function, leading to dyspnea, dysphagia, and aspiration (8). Recent studies indicate that other esophageal diseases that impair esophageal function may also be commoner in patients with repaired EA/TEF, further increasing the risk of aspiration, including eosinophilic esophagitis, congenital esophageal stenosis, and heterotopic gastric mucosa in the esophagus (9, 10).…”

Section: Introductionmentioning

confidence: 99%

Aspiration Risk and Respiratory Complications in Patients with Esophageal Atresia

Kovesi

2017

Front. Pediatr.

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Chronic, long-term respiratory morbidity (CRM) is common in patients with a history of repaired congenital esophageal atresia, typically associated with tracheoesophageal fistula (EA/TEF). EA/TEF patients are at high risk of having aspiration, and retrospective studies have associated CRM with both recurrent aspiration and atopy. However, studies evaluating the association between CRM in this population and either aspiration or atopy have reported conflicting results. Furthermore, CRM in this population may be due to other related conditions as well, such as tracheomalacia and/or recurrent infections. Aspiration is difficult to confirm, short of lung biopsy. Moreover, even within the largest evidence base assessing the association between CRM and aspiration, which has evaluated the potential relationship between gastroesophageal reflux and asthma, findings are contradictory. Studies attempting to relate CRM to prior aspiration events may inadequately estimate the frequency and severity of previous aspiration episodes. There is convincing evidence documenting that chronic, massive aspiration in patients with repaired EA/TEF is associated with the development of bronchiectasis. While chronic aspiration is likely associated with other CRM in patients with repaired EA/TEF, this does not appear to have been confirmed by the data currently available. Prospective studies that systematically evaluate aspiration risk and allergic disease in patients with repaired EA/TEF and document subsequent CRM will be needed to clarify the causes of CRM in this population. Given the prevalence of CRM, patients with repaired EA/TEF should ideally receive regular follow-up by multidisciplinary teams with expertise in this condition, throughout both childhood and adulthood.

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Vascular Anomalies Associated with Esophageal Atresia and Tracheoesophageal Fistula

Cited by 39 publications

References 26 publications

Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association

Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association

Genetic Testing in a Cohort of Complex Esophageal Atresia

Aspiration Risk and Respiratory Complications in Patients with Esophageal Atresia

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