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Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

ABSTRACT: Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal and Limb malformations) is the most recognised. Recently, microdeletions of the FOX gene cluster at 16q24.1, comprising four genes, FOXF1, MTHFSD, FOXC2 and FOXL1, were reported to cause a phenotype resembling VACTERL association, with vertebral anomalies, gastro-intestinal atresias (esophageal, duodenal and anal), congenital heart malformations, and urinary tract malformations, as well as a rare lethal developmental anomaly of the lung, alveolar capillary dysplasia. This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway.

SUBMITTER: Shaw-Smith C

PROVIDER: S-EPMC2809919 | biostudies-literature | 2010 Jan-Feb

REPOSITORIES: biostudies-literature

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Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

Shaw-Smith Charles C

European journal of medical genetics 20091012 1

Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal and Limb malformations) is the most recognised. Recently, microdeletions of the FOX gene clust ...[more]

PMID: 19822228

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Project description:PurposeThe COVID-19 pandemic has resulted in a global health crisis of unparalleled magnitude. The direct risk to the health of children is low. However, disease-containment measures have society-wide impacts. This study explored the pandemic experiences of parents of children with oesophageal atresia/tracheo-oesophageal fistula (OA/TOF) in the UK.DesignA phenomenological approach underpinned use of an asynchronous online forum method, in collaboration with a patient support group. Data were evaluated using thematic analysis.ResultsThe online forum ran between 7 November and 18 December 2020 with 109 participants.Pandemic experiences were divided into themes relating to healthcare and disease containment. Participants described positive experiences with remote healthcare but identified limitations. Delays and cancellations led to escalation of care to an emergency level, slower developmental progress and feelings of being abandoned by services. Inpatient care was perceived as safe but caring alone was emotionally and practically challenging. Disease containment themes revealed anxiety regarding health risks, 'collateral' damage to well-being because of isolation, and an impact on finances and employment. Parents described a transition from worry about direct health risks to concern about the impact of isolation on socialisation and development. A process of risk-benefit analysis led some to transition to a more 'normal life', while others continued to isolate. Benefits to their child's health from isolation were reported.ConclusionsParents' experiences of caring for a child with OA/TOF during the pandemic were varied. Rapid adoption of telehealth has demonstrated the enormous potential of remote healthcare delivery but requires refinement to meet the needs of the individual. Future pandemic planning should aim to retain community healthcare services to avoid escalation of care to an emergency, manage chronic and developmental concerns, and support parental well-being. Accurate and consistent disease-specific information is highly valued by parents. Third sector organisations are ideally positioned to support this.

Project description:BackgroundA communicating bronchopulmonary foregut malformation (CBPFM) group IB is very rare congenital malformation. Group IB is associated with tracheoesophageal fistula and esophageal atresia (TEF-EA) and a portion of one lung arisen from the esophagus (Gerle et al. in N Engl J Med. 278:1413-1419, 1968). The coexistence of TEF-EA and dextrocardia is also a rare and challenging setting for repair of TEF-EA. Therefore, the thoracoscopic surgery for TEF-EA require the technical devise because of the small operative space. We herein report a rare case of CBPFM group IB with intralobar sequestration of lung and a successful performing of thoracoscopic surgery for EA with dextrocardia in VACTERL association.Case presentationA 2.2-kg term male neonate was born with an anal atresia, coarctation of the aorta, TEF-EA, renal anomalies, radial hemimelia, limb abnormalities (VACTERL association) and hypoplasia of the right lung with dextrocardia. The patient developed respiratory distress after admission. A two-stage operation for the TEF-EA was planned because of multiple anomalies and cardiac condition. In the neonatal period, esophageal banding at the gastroesophageal junction and gastrostomy were performed to establish enteral nutrition. After gaining body weight and achieving a stable cardiac condition, thoracoscopic surgery for TEF-EA was performed. The thoracoscopic findings revealed a small working space due to dextrocardia. To obtain a sufficient working space and to perform secure esophageal anastomosis, an additional 3-mm assistant port was inserted. To close the upper and lower esophagus, anchoring sutures of the esophagus were placed and were pulled to suspend the anastomotic site. Esophageal anastomosis was successfully performed. An esophagogram after TEF-EA surgery showed the connection between the lower esophagus and right lower lung. The definitive diagnosis was CBPFM group IB with intralobar sequestration. The thoracoscopic surgery was performed again for establishing oral intake. After transection of the bronchoesophageal fistula, the patient could perform oral feeding without pneumonia or respiratory distress.ConclusionsCBPFM type IB with intralobar sequestration is a rare condition. CBPFM type IB should be considered for a patients with respiratory symptom after radical operation for TEF-EA. In the present case, suspending the anastomotic site was effective and useful in thoracoscopic surgery for a TEF-EA patient with dextrocardia.

Dataset Information

Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

Publications

Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

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