Congenital Tracheoesophageal Anomalies: perinatal imaging findings and common complications
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1 Congenital Tracheoesophageal Anomalies: perinatal imaging findings and common complications Poster No.: C-2246 Congress: ECR 2013 Type: Educational Exhibit Authors: T. L. Martin, I. Maianski; Halifax, NS/CA Keywords: Congenital, Endoscopy, Comparative studies, Ultrasound, Fluoroscopy, CT, Paediatric, Ear / Nose / Throat DOI: /ecr2013/C-2246 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 38
2 Learning objectives 1. To describe the embryology of the congenital tracheoesophageal anomalies (TEA), focusing on esophageal atresia with and without a tracheaoesophageal fistula and laryngo-tracheo-esophageal (laryngeal) clefts. 2. To outline prenatal and postnatal imaging findings of TEAs in correlation with endoscopic findings, emphasizing the subtlety of high grade larengeal clefts on initial presentation. 3. To portray common perioperative complications associated with TEAs. Page 2 of 38
3 Background Esophageal atresia, with or without tracheoesophageal fistula (Fig. 1), is the most common congenital malformation of the esophagus (incidence1/3,000-4,500 ). Esophageal atresia with distal TEF (type C) represents the most common type, accounting for 87% of the cases. Isolated atresia without TEF (type A), esophageal atresia with proximal TEF (type B), esophageal atresia with both proximal and distal TEF (type D) and isolated TEF (type E) account for 8%, 1%, 1% and 4% respectively. In early fetal life, the esophagus and trachea are one tube, which divides into two structures by the infolding of the lateral walls of the foregut. Although the precise embryological process is unknown, it is thought that the incomplete folding and failure of the lateral mesodermal walls to meet at any point, results in tracheoesophageal fistula. If these lateral folds turn dorsally in their development, thereby cutting through the esophageal lumen, atresia results. Intrauterine anoxia or stress with resulting vascular compromise may also play a role by leading to a focal necrosis of the esophagus with subsequent atresia and/or tracheoesophageal communication [2]. Laryngo-tracheo-oesophageal cleft, commonly termed laryngeal cleft (LC), is a congenital malformation of the posterior part of the larynx that may extend to the trachea (Fig. 2), creating an abnormal communication between the laryngo-tracheal and the pharyngo-esophageal axis. Similarly to TEF, it is thought to be a consequence of premature arrest in development of the tracheo-oesophageal septum, and the lack of fusion of the two lateral parts of the developing cricoid cartilage. The incidence of LC is quoted to be 1: However, it is likely underestimated for several reasons: 1) minor LC (type I) may either be asymptomatic or show only mild symptoms; 2) the endoscopic diagnosis is difficult and several reports of a missed malformation despite a well-conducted endoscopic assessment exist in the literature; 3) high-grade LC (type IV) have a high mortality rate, often leading to the patient's death before diagnosis can be made; 4) the endoscopic assessment may not be a priority in cases with numerous associated malformations [6]. TEAs are often associated with other congenital abnormalities, most notably VACTERL, but CHARGE, Potter and PallisterHall syndromes have also been reported [3]. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Treatment requires endoscopic or external surgery to close the cleft, except in type I cases, in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity [6]. Majority of esophageal atresia with or without TEF require surgical treatment. However, in type E fistula, the diagnosis may be delayed for years even with the presentation of cough when swallowing, recurrent pneumonia, and distended abdomen. Page 3 of 38
4 Page 4 of 38
5 Images for this section: Fig. 1: Types of Esophageal Atresia with and without TEF (Gross classification) RadioGraphics July 1999 vol. 19 no Fig. 2: Benjamin and Inglis classification of laryngeal clefts 2013 Nature Publishing Group Page 5 of 38
6 Imaging findings OR Procedure details Prenatal Imaging: On prenatal US, esophageal atresia may be suggested by a combination of polyhydramnios, reduced intraluminal liquid in the fetal gut, persistently small or absent fetal stomach and fetal growth restriction. The "Pouch sign", an anechoic mass in the neck or mediastinum, has been described, representing the proximal pouch. Types C, D and E of esophageal atresia, as well as low grade LCs, may have a normal appearance on an US. This is attributed to the stomach being filled with amniotic fluid through the fistula. A prenatal diagnosis of low or high grade LC has never been reported, although associated anomalies may be detected on fetal ultrasonography [6]. Fig. 3, 4 and 5 illustrate two cases of laryngeal clefts at our institution that had findings suggestive of esophageal atresia on prenatal US. Prenatal MR can be offered to patients with congenital abnormalities detected on US although the utility of the test remains controversial. Postnatal Preoperative Imaging: Radiologic diagnosis of esophageal atresia in a postnatal period is based on anteroposterior and lateral chest radiographs, which reveal a blind pouch of the proximal esophagus, distended with air (Fig. 6). Radiographic evaluation should always include the abdomen to look for the presence of air in the gastrointestinal tract (from distal fistula). In types A and B esophageal atresia, there is a complete absence of gas in the stomach and intestinal tract (Fig. 6). In types C, D and E, the gastrointestinal tract usually appears distended with air (Fig. 7). Confirmation is accomplished by passing a radiopaque feeding tube through the nose to the level of the atresia. The tube curls when it approaches the blind end. This offers important information regarding the location of the pouch and aids in surgical planning. Injection of water-soluble contrast to outline the pouch is optional. Radiologic investigation, when type E (H-shaped fistula without atresia) (Fig. 8) is suspected, is directed to demonstration of the fistula, which most often courses from the esophagus anteriorly and cephalad. Contrast injection should be performed with caution and meticulous technique, under fluroscopic guidance. Low osmolar watersoluble contrast medium is preferred due to a high risk of aspiration. Atelectasis and pneumonia involving the upper right lobe are seen in up to 50% of cases. The use of direct sagittal CT in the evaluation of esophageal atresia has been reported in the past, although sagittal reformations obtained from thin-section multidetector scans are preferable when available (Fig. 9). Three-dimensional CT and virtual bronchoscopy allow accurate location of the site of fistula and can show the length of gap between the proximal and distal esophageal pouches, however the drawback is radiation exposure. Page 6 of 38
7 In LCs, the routine chest radiographs are usually not conclusive and may only provide signs of parenchymal anomalies secondary to aspiration. In high grade LCs, an UGI study demonstrates a flow of contrast material from esophagus into the trachea, usually leading to a false diagnosis of TEF (Fig. 10, 11, 12). This is partially attributable to the lack of knowledge about laryngeal cleft entity by the radiologists [6]. Frates et al. proposed a diagnostic fluoroscopic sign: overlapping of the contrast-filled anterior "trachea" and posterior "esophagus," unchanged in all phases of respiration, with no soft-tissue mass between the lumen of the trachea and the esophagus [5] (Fig. 10, 11). CT imaging is useful in some patients, as it can demonstrate an abnormal communication and a lack of soft tissue between the trachea and the esophagus (Fig 16, 17). However, neither radiographs, nor CT or MR examinations are commonly used to diagnose an LC, and the ultimate diagnosis is largely dependent on endoscopy (Fig. 13, 14, 15). MR imaging may be useful in assessment of the associated spinal and brain malformations. Common preoperative complications associated with tracheoesophageal anomalies include aspiration pneumonitis (Fig. 18) and, more rarely, gastric/esophageal perforation, usually related to a forceful insertion of a feeding tube (Fig. 19, 20, 21). Grade IV LCs tend to present with massive aspiration (Fig. 22) and inability to maintain an airway, leading to death within the first week of life. Postoperative Imaging: The mainstay of postoperative imaging in TEAs remain the fluoroscopic studies, with a potential use of CT or MR in selected cases. The goal of imaging is to assess for surgical complications and the recurrence of the disease/surgical failure. Some common short term postoperative complications include a breakdown of the repair site or a leak (Fig. 23, 24, 25), pneumothorax/pneumomediastinum (Fig. 26), aspiration (Fig. 27), and, particularly with a repair of laryngeal clefts, injury to the recurrent laryngeal nerve (more frequently seen with an open rather than an endoscopic repair). Long-term postoperative complications include esophageal stenosis and dysmotility (Fig. 28, 29, 30), food bolus obstruction, gastro-esophageal reflux, recurrent fistula (at the site of the original surgery, as opposed to the H fistula), tracheomalacia (Fig. 31) and chronic lung disease secondary to recurrent aspiration. Page 7 of 38
8 Images for this section: Fig. 3: Fig.3, 4, 5. A 36 y.o G3P2 and 31 y.o G1P0 both assessed at Maternal Fetal Assessment Center after prenatal screening blood test demonstrated elevated markers for Trisomy 21. US images are typical of esophageal atresia with the absence of a stomach bubble and polyhadramnion. However, both infants were diagnosed with LC postnataly. Page 8 of 38
9 Fig. 4: Fig.3, 4, 5. A 36 y.o G3P2 and 31 y.o G1P0 both assessed at Maternal Fetal Assessment Center after prenatal screening blood test demonstrated elevated markers for Trisomy 21. US images are typical of esophageal atresia with the absence of a stomach bubble and polyhadramnion. However, both infants were diagnosed with LC postnataly. Page 9 of 38
10 Fig. 5: Fig.3, 4, 5. A 36 y.o G3P2 and 31 y.o G1P0 both assessed at Maternal Fetal Assessment Center after prenatal screening blood test demonstrated elevated markers for Trisomy 21. US images are typical of esophageal atresia with the absence of a stomach bubble and polyhadramnion. However, both infants were diagnosed with LC postnataly. Page 10 of 38
11 Fig. 6: Supine frontal radiograph demonstrates classical features of an isolated esophageal atresia, including a gassles abdomen and an air-containing proximal esophageal pouch, in this case containing an NG tube. Page 11 of 38
12 Fig. 7: A 1 day old M with esophageal atresia and distal TEF (type C esophageal atresia). Frontal chest radiograph demonstrates the tip of the NG tube curled in the proximal esophageal pouch. The stomach and bowel contain air. Page 12 of 38
13 Fig. 8: A 29 day old M with H-type fistula commonly located in the lower cervical region. Segmental narrowing of the lower esophagus is related to peristalsis. Page 13 of 38
14 Fig. 9: A 1 day old M with prenatal diagnosis of esophageal atresia. A sagittal CT image demonstrates atresia of the esophagus (containing NG tube)and a proximal TEF, consistent with a type B fistula. Page 14 of 38
15 Fig. 10: Fig. 10 and 11. A 2 day old F with presumed prenatal diagnosis of esophageal atresia. Water soluble contrast is injected through the enteric tube. Upper esophageal "pouch" opacifies nearly simultaneously with the trachea, giving an erroneous impression of a TEF. Note no soft tissue layer between the esophagus and the trachea, consistent with an LC sign proposed by Frates. Page 15 of 38
16 Fig. 11: Fig. 10 and 11. A 2 day old F with presumed prenatal diagnosis of esophageal atresia. A water soluble contrast is injected through the enteric tube. Upper esophageal "pouch" opacifies nearly simultaneously with the trachea, giving an erroneous impression of a TEF. Note no soft tissue layer between the esophagus and the trachea, consistent with an LC sign proposed by Frates. Page 16 of 38
17 Fig. 12: Lateral frouroscopic images demonstrate an "Inverted U" shaped structure distally, representing a small dysplastic stomach and a region of a "contained leak" secondary to perforation. Page 17 of 38
18 Fig. 13: Fig.13,14,15. Endoscopic images demonstrate non-fusion of the lateral tracheoesophageal folds, in keeping with grade IV LC. Page 18 of 38
19 Fig. 14: Fig.13,14,15. Endoscopic images demonstrate non-fusion of the lateral tracheoesophageal folds, in keeping with grade IV LC. Page 19 of 38
20 Fig. 15: Fig.13,14,15. Endoscopic images demonstrate non-fusion of the lateral tracheoesophageal folds, in keeping with grade IV LC. Page 20 of 38
21 Fig. 16: A 1 day old M with presumed prenatal diagnosis of esophageal atresia. Sagittal CT image through the neck demonstrates a continuous posterior tracheal wall defect resulting in communication between the trachea and esophagus. Page 21 of 38
22 Fig. 17: A 1 day old M with presumed prenatal diagnosis of esophageal atresia. Axial CT image through the neck demonstrates a continuous posterior tracheal wall defect resulting in a communication between the trachea and esophagus. Page 22 of 38
23 Fig. 18: A 29 day old M with the diagnosis of an isolated TEF without esophageal atresia. Frontal chest radiograph demonstrates bilateral patchy opacities with a consolidation in the RUL, consistent with aspiration pneumonia. Page 23 of 38
24 Fig. 19: Lateral radiograph of the chest and abdomen in a 1 day old M with nonsuspected esophageal atresia demonstrates intra-abdominal NG tube posterior and caudal in relation to the stomach, in keeping with gastric perforation. Page 24 of 38
25 Fig. 20: Fig 20 and 21. Frontal and lateral radiographs of the abdomen in a 1 day old M with esophageal atresia demonstrate pneumoperitoneum secondary to gastric perforation post NG tube insertion. Page 25 of 38
26 Fig. 21: Fig 20 and 21. Frontal and lateral radiographs of the abdomen in a 1 day old M with esophageal demonstrate pneumoperitoneum secondary to gastric perforation post NG tube insertion. Page 26 of 38
27 Fig. 22: Frontal chest radiograph of a 2 day old infant with grade IV laryngeal cleft post UGI study demonstrates a large amount of contrast material in the right lung. Page 27 of 38
28 Fig. 23: A 10 month old M 10 days post laryngeal cleft repair. An oblique UGI fluoroscopic image demonstrates contrast material in the trachea at the level of the surgical repair, suggestive of a surgical failure. Page 28 of 38
29 Fig. 24: A 4 months old M post repair of esophageal atresia with TEF. An oblique UGI fluoroscopic image demonstrates a communication between the esophagus and the trachea, compatible with a recurrent fistula. Page 29 of 38
30 Fig. 25: A 5 y.o M post TEF repair. A frontal UGI fluoroscopic image demonstrates a small contained leak/diverticulum at the repair site on the right. Page 30 of 38
31 Fig. 26: Frontal chest radiograph demonstrates a small left-sided pneumothorax in an infant post esophageal atresia with TEF repair. Page 31 of 38
32 Fig. 27: Evidence of aspiration with contrast material visualized in the upper trachea on the frontal UGI fluoroscopic image in an infant post recent TEF repair. Page 32 of 38
33 Fig. 28: A 2 y.o M with history of TEF repair. UGI flouroscopic images demonstate significant esophageal stenosis at the site of the repair with hold up of contrast material in the proximal esophagus. Page 33 of 38
34 Fig. 29: A 3 y.o F with a history of a remote TEF repair presents with foreign body aspiration. Lateral fluoroscopic image of the chest demonstrates a radio-opaque foreign body lodged at the site of surgical reapair and esophageal stenosis, above the level of the carina. Page 34 of 38
35 Fig. 30: A 48 y.o F with a remote history of a presumable TEF repair, and a long history of esophageal narrowing and dysmotility. A lateral UGI flouroscopic image demonstrates tertiary waves in the lower esophagus with associated segmental esophageal narrowing. Page 35 of 38
36 Fig. 31: A 2 y.o M with a remote history of esophageal atresia and TEF repair. An oblique UGI fluoroscopic image demonstrates narrowing of the trachea, consistent with tracheomalacia. Page 36 of 38
37 Conclusion Despite the fact that the laryngeal cleft anomalies are rare, this entity should be considered in the differential diagnosis of a neonate presenting with feeding/respiratory difficulties and a working diagnosis of esophageal atresia and/or tracheoesophageal fistula. Familiarity with this condition and, at times subtle, imaging features should prompt an urgent endoscopic evaluation. Early and accurate diagnosis of a laryngeal cleft, particularly a high grade cleft, may drastically alter patient's management with ultimate reduction of otherwise high morbidity and mortality associated with this condition. Page 37 of 38
38 References Berrocal T, Torres I, Gutiérrez J, Prieto C, del Hoyo ML, Lamas M. Congenital anomalies of the upper gastrointestinal tract. RadioGraphics 1999; 19: Berrocal T., Madrid C., Novo S. et al. Congenital Anomalies of the Tracheobronchial Tree, Lung, and Mediastinum: Embryology, Radiology, and Pathology RadioGraphics January :1 e17; Published online November 10, 2003, doi: /rg.e17. Botto LD, Khoury MJ, Mastroiacovo P, et al. The spectrum of congenital anomalies of the VATER asociation: an international study. Am J Med Genet 1997; 71:8-15. Cumming WA. Esophageal atresia and tracheoesophageal fistula. Radiol Clin North Am 1975; 13: Frates RE. Roentgen Signs in Laryngothracheoesophageal Cleft. March 1967 Radiology, 88, Leboulanger N., Garabedian EN. Laryngo-tracheo-oesophageal clefts. Orphanet J Rare Dis. 2011; 6: 81. Tam PKH, Chan FL, Saing H. Diagnosis and evaluation of esophageal atresia by direct sagittal CT. Pediatr Radiol 1987; 17: Page 38 of 38
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