Regenerative Strategy for Persistent Periprosthetic Leakage around Tracheoesophageal Puncture: Is It an Effective Long-Term Solution?

Autologous tissue-assisted regenerative procedures have been considered effective to close different types of fistula, including the leakage around tracheoesophageal puncture. The aim of this study was to retrospectively review 10 years of lipotransfer for persistent periprosthetic leakage in laryngectomized patients with voice prosthesis. Clinical records of patients who experienced periprosthetic leakage from December 2009 to December 2019 were reviewed. Patients receiving fat grafting were included. The leakage around the prosthesis was assessed with a methylene blue test. Twenty patients experiencing tracheoesophageal fistula enlargement were treated with fat grafting. At the one-month follow-up, all patients were considered improved with no leakage observed. At six months, a single injection was sufficient to solve 75% of cases (n 15), whereas 25% (n 5) required a second procedure. The overall success rate was 80% (n 16). Results remained stable for a follow-up of 5.54 ± 3.97 years. Fat grafting performed around the voice prosthesis, thanks to its volumetric and regenerative properties, is a valid and lasting option to solve persistent periprosthetic leakage.

Identification of acquired tracheoesophageal fistula after tracheostomy decannulation by videofluoroscopic swallowing study: A case report.

RATIONALE: Videofluoroscopic swallowing study (VFSS) is a noninvasive radiographic procedure that examines the oral, pharyngeal, and cervical esophageal stages of swallowing. Tracheoesophageal fistula (TEF) is difficult to diagnose depending on its size and location. However, how VFSS can be of benefit in the diagnosis of TEF has not been reported yet. PATIENT CONCERNS: A 64-year-old man who had been tracheostomized post spinal tumor resection surgery at the cervical level 1 to 2, had his tracheostomy tube removed approximately 25 years ago. After decannulation, he reported coughing while swallowing food, foreign sensation in the neck and repeated bouts of pneumonia ever since. DIAGNOSIS: VFSS revealed, for the first time, acquired TEF after tracheostomy decannulation as the cause of repetitive aspiration pneumonia. INTERVENTION: VFSS was performed in this case. OUTCOMES: In the background of suspected TEF based on VFSS results, the patient underwent a computed tomography scan of the chest and airway in the prone position, followed by bronchoscopy, which confirmed the existence of a TEF. He then underwent primary closure of the fistula. The patient had an uneventful recovery and is currently symptom-free 10 months after the surgery. LESSONS: This case alerts clinicians to the possibility of TEF as a diagnosis when the aspirate leaks from the upper esophagus and through the posterior wall of trachea in the esophageal phase of VFSS.

Care recommendations for the respiratory complications of esophageal atresia-tracheoesophageal fistula.

Tracheoesophageal fistula (TEF) with esophageal atresia (EA) is a common congenital anomaly that is associated with significant respiratory morbidity throughout life. The objective of this document is to provide a framework for the diagnosis and management of the respiratory complications that are associated with the condition. As there are no randomized controlled studies on the subject, a group of experts used a modification of the Rand Appropriateness Method to describe the various aspects of the condition in terms of their relative importance, and to rate the available diagnostic methods and therapeutic interventions on the basis of their appropriateness and necessity. Specific recommendations were formulated and reported as Level A, B, and C based on whether they were based on "strong", "moderate" or "weak" agreement. The tracheomalacia that exists in the site of the fistula was considered the main abnormality that predisposes to all other respiratory complications due to airway collapse and impaired clearance of secretions. Aspiration due to impaired airway protection reflexes is the main underlying contributing mechanism. Flexible bronchoscopy is the main diagnostic modality, aided by imaging modalities, especially CT scans of the chest. Noninvasive positive airway pressure support, surgical techniques such as tracheopexy and rarely tracheostomy are required for the management of severe tracheomalacia. Regular long-term follow-up by a multidisciplinary team was considered imperative. Specific templates outlining the elements of the clinical respiratory evaluation according to the patients' age were also developed.

Safety and Efficacy of the Tracheobronchial Bonastent: A Single-Center Case Series.

BACKGROUND: Tracheobronchial stents are widely used devices in interventional pulmonology; however, the current literature on the effectiveness and complication rates of the different types of stents is limited. OBJECTIVE: We report the largest case series of airway Bonastent placement and describe the efficacy and early (<30 days) and late (≥30 days) complication rates. METHODS: We performed a retrospective review of our prospectively collected database of patients who underwent therapeutic bronchoscopy with stent placement. All adult patients who had a tracheal/bronchial Bona-stent placed between July 1, 2017, and July 30, 2019, for any indication at our institution were included. The efficacy as well as intraoperative and short- and long-term complications of Bonastent placement were evaluated. RESULTS: Sixty Bonastents were placed in 50 patients. The etiology was malignant in 90% of the cases, while 2 patients had a tracheoesophageal fistula. All procedures were performed via rigid bronchoscopy. The most common location for stent placement was the bronchus intermedius, followed by the trachea, in 32 and 30% of the cases, respectively. Seventy percent of the patients (35/50) had improvement of respiratory symptoms within 30 days. Twenty-eight stents (48%) were removed at a mean of 74 days. Seventeen patients (34%) died within 30 days of stent placement. The overall complication rate was 54% (27/50 patients) at a mean follow-up of 111 days. The stent-related complication rate was 23.3% (14/60 cases) within <30 days and 53% (18/34 cases) at ≥30 days. CONCLUSIONS: The tracheobronchial Bonastent is effective for the treatment of patients with central airway obstruction and tracheoesophageal fistulae with an acceptable safety profile.

Tracheoesophageal fistula associated with bevacizumab after thoracic radiotherapy in non-small cell lung cancer: A case report.

INTRODUCTION: Tracheoesophageal Fistula (TF) is a rare complication of Bevacizumab. Thoracic radiotherapy may be a contributing factor to TF formation. To the best of our knowledge, we report the first case of Chinese patient with non-small cell lung cancer (NSCLC) who developed TF after completion of chemotherapy with bevacizumab and thoracic radiotherapy. PATIENT CONCERNS: A 54-year-old male patient was diagnosed with NSCLC. He received definitive thoracic radiotherapy with concurrent pemetrexed and cisplatin chemotherapy. Two months after the treatment, the disease progressed with enlargement of right inguinal lymph node and chemotherapy of docetaxel, carboplatin and bevacizumab was administrated. Eighteen days after 4 cycles, the patient presented a sudden onset of acute cough after drinking. DIAGNOSIS: Esophageal barium swallow revealed a TF. Gastroscopy confirmed a fistula in the esophagus. INTERVENTIONS: A jejunal feeding tube was placed for nutrition for a month. After that a covered esophageal stent was placed in the esophagus. OUTCOMES: At the 6-month follow-up visit, the patient recovered well and had not developed any complication related to the stent placement. CONCLUSION: TF is a rare but life-threatening complication of bevacizumab. Careful observation is imperative for those patients who are administered bevacizumab, particularly in patients treated previously with thoracic radiotherapy.

Tracheoscopic Findings and Their Impact on Respiratory Symptoms in Children with Esophageal Atresia.

INTRODUCTION: Esophageal atresia (EA) is often accompanied by tracheobronchial malformations leading to stridor, recurrent bronchitis, and occasionally to life-threatening obstructive apnea after surgical repair. The aim of this study was to identify the presence of tracheomalacia in patients with EA and tracheoesophageal fistula (TEF) pre- and postoperatively and to find endoscopic correlates leading to clinical airway symptoms. METHODS: In a cohort of 362 patients with EA-TEF who underwent 595 tracheoscopies at the Children's Hospital of Cologne between January 1983 and December 2002, impaired tracheal lumen, localization of TEF, tracheal pulsations, and corresponding clinical symptoms were retrospectively analyzed. RESULTS: The incidence of tracheomalacia was higher in patients with EA and TEF (Gross B-D) compared with patients with EA alone (Gross A) and average tracheal collapse does not significantly change before and after surgical repair of the esophagus in all types. Patients with cyanosis while eating and obstructive apnea presented with an average tracheal collapse of 89%. The presence of respiratory symptoms such as cough, stridor, or bronchitis was not associated with a higher grade of tracheal collapse compared with patients without any airway symptoms (average tracheal collapse of 37% in symptomatic patients vs. 33% in nonsymptomatic patients). CONCLUSION: Tracheomalacia tends to be present independently of surgical procedure. Tracheomalacia should be measured by tracheoscopy (in % of tracheal collapse). Patients with a tracheal collapse of >80%, a ventral pulsation, and obstructive apnea or cyanosis in combination, are at risk for life-threatening situations and further surgical treatment should be considered.

Assessment of the Concerns of Caregivers of Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula Related to Feeding-Swallowing Difficulties.

The study aimed to assess concerns of caregivers of children with EA-TEF related to feeding-swallowing difficulties, compare the concerns according to type of atresia and repair time, and investigate its relationship with time to start oral feeding. Caregivers accompanying 64 children with EA-TEF were included. Age, sex, type of atresia, repair time, and time to start oral feeding were noted. Parents completed the Turkish version of the Feeding/Swallowing Impact Survey (T-FS-IS) to assess the concerns of caregivers related to feeding-swallowing difficulties. The T-FS-IS has three subscales including daily activities, worry, and feeding difficulties. The median age of patients was 3 (min = 1, max = 12) years, of which 57.8% were male. 43.8% of cases were isolated-EA, and 56.3% were EA-distal TEF. 57.8% of cases received early repair, and 42.2% had delayed repair. The median time to start oral feeding was 4 weeks (min = 1, max = 128). The mean scores of daily activities, worry, feeding difficulties, and total score from the T-FS-IS were 2.43 ± 1.18, 2.73 ± 1.28, 2.10 ± 0.97, and 2.44 ± 1.09, respectively. Caregivers of children with isolated-EA reported more problems in total score and all subscales of the T-FS-IS than EA-distal TEF (p < 0.01). Caregivers of children who received delayed repair reported more problems in total score and all subscales of the T-FS-IS than children with early repair (p < 0.05). Moderate to strong correlations were found between the T-FS-IS and time to start oral feeding (p < 0.01, r = 0.55-0.65). This study suggests that caregivers of children with isolated-EA and/or delayed repair and/or delay in oral intake may have higher concerns related to feeding-swallowing difficulties.

Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease: outcome of a rare phenotype.

Oesophageal atresia with or without tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease are surgical malformations of the gastrointestinal tract typically diagnosed early in the neonatal period and varying in severity and prognosis. This report describes a full-term male newborn presenting simultaneous oesophageal atresia with distal tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease. In addition to the complex types of gastrointestinal malformations involved, the combination of ileal atresia and Hirschsprung's disease, as well as ganglion cells distal to intestinal atresia, resulted in a challenging diagnosis. Despite a successful outcome, the patient presented increased morbidity and prolonged hospitalisation. We highlight some important findings that may aid the early diagnosis of Hirschsprung's disease in this clinical setting. To our knowledge, the association of oesophageal atresia/tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease has not been previously reported.

Prevalence and Predictive Factors of Histopathological Complications in Children with Esophageal Atresia.

OBJECTIVES: Endoscopic follow-up after esophageal atresia (EA) tracheoesophageal fistula (TEF) repair is recommended to detect esophageal histopathological complications. We investigated the prevalence of histopathologically proven esophageal complications (peptic esophagitis, gastric metaplasia, and eosinophilic esophagitis) and assessed the predictors of these complications in children with EA-TEF. MATERIALS AND METHODS: This is a prospective longitudinal cohort study performed between September 2005 and December 2014 comprising 77 children with EA-TEF followed-up until February 2017. Univariate analysis was performed using the Wilcoxon's rank-sum test for continuous variables and the Pearson's chi-square test for categorical variables. Multivariable analysis was performed using a Cox regression hazard model. The association between clinical factors and histopathologically proven complications was estimated using a Cox regression hazard model with time until the appearance of complications as the time scale. RESULTS: All 77 children received proton pump inhibitors (PPIs) (n = 73) or H2 receptor antagonists (H2RA). A total of 252 endoscopies were performed in 73 children (median 2.6/child, range: 1-29). Median age at study completion was 4.9 years (range: 2.3-11.5 years). Histopathologically proven complications occurred in 38 children (52%): peptic esophagitis (n = 32, 44%), eosinophilic esophagitis (n = 15, 21%), and gastric metaplasia (n = 9, 12%). A total of 82% patients were on PPI or H2RA at the time of diagnosis of histological complication. Multivariable Cox regression analysis showed that patients with recurrent anastomotic strictures (>3 dilations) had a higher risk of occurrence of histopathologically proven complications over time (hazard ratio: 3.11, 95% confidence interval [CI]: 1.53-6.34). On univariate analysis, the result of the first endoscopy was not associated with the occurrence of histopathologically proven complications (odds ratio: 0.8, 95% CI: 0.16-3.95). CONCLUSION: Histopathologically proven complications with potential long-term consequences occurred in approximately 50% of children after EA-TEF repair. A history of recurrent anastomotic strictures is associated with the occurrence of these complications. The result of the first endoscopy does not predict the histopathological outcome. Children with EA-TEF warrant close and systematic long-term follow-up at specialized multidisciplinary clinics with endoscopic evaluation.

Prevalence and natural history of scoliosis and associated congenital vertebral anomalies in patients operated for esophageal atresia with or without tracheoesophageal fistula.

BACKGROUND: Scoliosis has been reported after repair of esophageal atresia with or without tracheoesophageal fistula (EA-TEF). This study aims to investigate the prevalence and natural history of scoliosis and associated congenital vertebral anomalies in patients operated for EATEF. METHODS: A retrospective review of patients operated for EA-TEF with radiological examination for the presence of scoliosis or associated spine congenital anomalies was done on 106 patients (ages 5-19 years). RESULTS: Scoliosis was found in 53 patients (49%) for which 46 of these were in the thoracic region and 33 were right-thoracic curves. After a follow-up ranging from 5 to 14 years, four patients (3.7%) out of 106 were operated for scoliosis. Right-sided thoracotomy (RST) was the identifiable risk factor for scoliosis development; all patients with scoliosis had their EA repaired through RST. Congenital vertebral anomalies were found in 8 of those patients (7.5%). After a median follow-up of 6.5 years, no patients progressed enough to require operation. CONCLUSION: Scoliosis affects one of every two patients operated for EA; it may progress to the indication of surgery. RST was the identifiable risk factor for scoliosis development.

Hypertrophic pyloric stenosis following repair of oesophageal atresia and tracheo-oesophageal fistula in a neonate.

Development of hypertrophic pyloric stenosis (HPS) after a few weeks of repair of an oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) is a rare condition in early infancy. Although vomiting or feeding intolerance in operated cases of OA+TOF are attributed to oesophageal stricture, gastro-oesophageal reflux and oesophageal dysmotility, it may also be caused by HPS. Herein, we report a newborn infant who had OA and TOF operation on day 2 of life and diagnosed to have HPS at 15th day of age. Even though it is a rare anomaly, HPS should be kept on mind in the presence of persistent vomiting following repair of OA.

Infants Born with Esophageal Atresia with or without Tracheo-Esophageal Fistula: Short- and Long-Term Outcomes.

BACKGROUND: The estimated incidence of esophageal atresia (EA) with or without tracheo-esophageal fistula (TEF) is 1:3500 live births. During childhood these patients have various co-morbidities, but the overall quality of life among adults is similar to that of the general population. OBJECTIVES: To evaluate short- and long-term co-morbidities and quality of life among infants born with EA ± TEF at a large single medical center. METHODS: Medical records of 65 children born over a 21 year period were reviewed for short- and long-term medical data. Telephone interviews were conducted with 46 of their parents regarding medical problems and quality of life after home discharge. RESULTS: The main long-term co-morbidities during the first 2 years of life, 4-6 years of age, and during adolescence (12-16 years) included gastro-esophageal reflux disease (GERD) in 56.5%, 35.8%, and 18.7%, respectively; stridor in 84.8%, 45.2%, and 12.5%, respectively; hyper-reactive airway disease (HRAD) in 43.5%, 35.5%, and 36.5%, respectively; recurrent pneumonia in 43.5%, 32.3%, and 18.8%, respectively; and overall recurrent hospitalizations in 87%, 41.9%, and 25%, respectively. The quality of life was reportedly affected among 100%, 75%, and 33.3% respectively. CONCLUSIONS: Long-term follow-up of patients with EA ± TEF indicates a high burden of co-morbidities during the first 6 years of life, with a gradual decrease in symptoms thereafter. Nevertheless, HRAD continued to impact the daily life of about one-third of the older adolescents, and GERD one-fifth. A long-term multidisciplinary follow-up should be conducted to prevent late onset complications that may affect the quality of life.

Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula.

BACKGROUND: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a complex disorder, and most outcome data are confined to mortality and feeding-related morbidities. Our objective was to examine mortality, growth and neurodevelopmental outcomes in a large recent cohort of infants with EA/TEF. METHODS: Single center study of EA/TEF infants referred from January 2000 to December 2015. Data collected included associated defects, neonatal morbidity and mortality and growth and neurodevelopmental outcomes at age 12-36months. Multiple regression analysis was used to determine variables associated with adverse outcome. RESULTS: Of the 253 infants identified, 102 infants (40%) were preterm. Overall mortality was 8.3%, the majority from major cardiac malformations (p<0.001) Neurodevelopmental assessments (n=182) showed that 76% were within normal, while some delay was seen in 24%, most often in expressive and receptive language. Nine infants had hearing impairment and 5 had visual impairment. Gastrostomy tubes were required in 47 patients and 15% continued to have weight growth velocities less than the 10th centile. A number of specialist interventions were required, Speech/Language being frequent. CONCLUSION: Mortality in EA/TEF is primarily related to concomitant anomalies, especially cardiac. Multidisciplinary follow up is important for early identification and intervention for growth failure and developmental delay. TYPE OF STUDY: Retrospective study LEVEL OF EVIDENCE: Level II.

Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia.

BACKGROUND: Tracheoesophageal fistula (TEF) and esophageal atresia (EA) are rare anomalies in neonates. Up to 50% of neonates with TEF/EA will have Vertebral anomalies (V), Anal atresia (A), Cardiac anomalies (C), Tracheoesophageal fistula (T), Esophageal atresia (E), Renal anomalies (R), and Limb anomalies (L) (VACTERL) association, which has the potential to cause serious morbidity. PURPOSE: Timely management of the neonate can greatly impact the infant's overall outcome. Spreading latest evidence-based knowledge and sharing practical experience with clinicians across various levels of the neonatal intensive care unit and well-baby units have the potential to decrease the rate of morbidity and mortality. METHODS/SEARCH STRATEGY: PubMed, CINAHL, Cochrane Review, and Google Scholar were used to search key words- tracheoesophageal fistula, esophageal atresia, TEF/EA, VACTERL, long gap, post-operative management, NICU, pediatric surgery-for articles that were relevant and current. FINDINGS/RESULTS: Advancements in both technology and medicine have helped identify and decrease postsurgical complications. More understanding and clarity are needed to manage acid suppression and its effects in a timely way. IMPLICATIONS FOR PRACTICE: Knowing the clinical signs of potential TEF/EA, clinicians can initiate preoperative management and expedite transfer to a hospital with pediatric surgeons who are experts in TEF/EA management to prevent long-term morbidity. IMPLICATIONS FOR RESEARCH: Various methods of perioperative management exist, and future studies should look into standardizing perioperative care. Other areas of research should include acid suppression recommendation, reducing long-term morbidity seen in patients with TEF/EA, postoperative complications, and how we can safely and effectively decrease the length of time to surgery for long-gap atresia in neonates.

Postoperative Complications and Functional Outcome after Esophageal Atresia Repair: Results from Longitudinal Single-Center Follow-Up.

BACKGROUND: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) represent major therapeutic challenges, frequently associated with serious morbidities following surgical repair. The aim of this longitudinal study was to assess temporal changes in morbidity and mortality of patients with EA/TEF treated in a tertiary-level center, focusing on postoperative complications and their impact on long-term gastroesophageal function. METHODS: One hundred nine consecutive patients with EA/TEF born between 1975 and 2011 were followed for a median of 9.6 years (range, 3-27 years). Comparative statistics were used to evaluate temporal changes between an early (1975-1989) and late (1990-2011) study period. RESULTS: Gross types of EA were A (n = 6), B (n = 5), C (n = 89), D (n = 7), and E (n = 2). Seventy (64.2%) patients had coexisting anomalies, 13 (11.9%) of whom died before EA correction was completed. In the remaining 96 infants, surgical repair was primary (n = 66) or delayed (n = 25) anastomosis, closure of TEF in EA type E (n = 2), and esophageal replacement with colon interposition (n=2) or gastric transposition (n=1). Long-gap EA was diagnosed in 23 (24.0%) cases. Postoperative mortality was 4/96 (4.2%). Overall survival increased significantly between the two study periods (42/55 vs. 50/54; P = 0.03). Sixty-nine (71.9%) patients presented postoperatively with anastomotic strictures requiring a median of 3 (range, 1-15) dilatations. Revisional surgery was required for anastomotic leakage (n = 5), recurrent TEF with (n = 1) or without (n=9) anastomotic stricture, undetected proximal TEF (n = 4), and refractory anastomotic strictures with (n = 1) or without (n = 2) fistula. Normal dietary intake was achieved in 89 (96.7%) patients, while 3 (3.3%) remained dependent on gastrostomy feedings. Manometry showed esophageal dysmotility in 78 (84.8%) infants at 1 year of age, increasing to 100% at 10-year follow-up. Fifty-six (60.9%) patients suffered from dysphagia with need for endoscopic foreign body removal in 12 (13.0%) cases. Anti-reflux medication was required in 43 (46.7%) children and 30 (32.6%) underwent fundoplication. The rate of gastroesophageal reflux increased significantly between the two study periods (29/42 vs. 44/50; P = 0.04). Twenty-two (23.9%) cases of endoscopic esophagitis and one Barrett's esophagus were identified. CONCLUSIONS: Postoperative complications after EA/TEF repair are common and should be expertly managed to reduce the risk of long-term morbidity. Regular multidisciplinary surveillance with transitional care into adulthood is recommended in all patients with EA/TEF.

Effect of Swallowing Rehabilitation Protocol on Swallowing Function in Patients with Esophageal Atresia and/or Tracheoesophageal Fistula.

Aim The aim of this study was to evaluate the results of Swallowing Rehabilitation Protocol (SRP) on swallowing function (SF) of esophageal atresia and tracheoesophageal fistula (EA-TEF) patients with pharyngeal swallowing disorder. Materials and Methods In this study, 24 children with EA-TEF who had deglutitive and respiratory problems were grouped into either study (n = 12) or control group (n = 12) by basic randomization. Study group received the SRP including neuromuscular electrical stimulation, thermal tactile stimulation, and hyolaryngeal mobilization. The control group received nonnutritive stimulations. SF was evaluated with 3 mL liquid and pudding barium by videofluoroscopic swallowing study (VFSS) before and after 20 sessions of interventions. Results No statistical differences were found between groups in terms of descriptive characteristics including age, sex, weight, height, type of atresia, repair type, repair time, and start time of oral intake (p > 0.05). There were no statistical differences between groups in term of swallowing parameters (p > 0.05), except reflux (p = 0.004) according to VFSS findings. After 20 sessions of interventions, the study group showed improvement in penetration-aspiration scale scores, oral phase dysfunction, delay in swallowing reflex, and residue in valleculae and pyriform sinuses after pudding swallow. The control group showed improvement only in oral phase dysfunction. Conclusion SRP can be recommended to improve SF in patients with EA/TEF who have pharyngeal swallowing disorders.

Longitudinal Follow-up of Chronic Pulmonary Manifestations in Esophageal Atresia: A Clinical Algorithm and Review of the Literature.

In the past decades improved surgical techniques and better neonatal supportive care have resulted in reduced mortality of patients with esophageal atresia (EA), with or without tracheoesophageal fistula, and in increased prevalence of long-term complications, especially respiratory manifestations. This integrative review describes the techniques currently used in the pediatric clinical practice for assessing EA-related respiratory disease. We also present a novel algorithm for the evaluation and surveillance of lung disease in EA. A total of 2813 articles were identified, of which 1451 duplicates were removed, and 1330 were excluded based on review of titles and abstracts. A total of 32 articles were assessed for eligibility. Six reviews were excluded, and 26 original studies were assessed. Lower respiratory tract infection seems frequent, especially in the first years of life. Chronic asthma, productive cough, and recurrent bronchitis are the most common respiratory complaints. Restrictive lung disease is generally reported to prevail over the obstructive or mixed patterns, and, overall, bronchial hyperresponsiveness can affect up to 78% of patients. At lung imaging, few studies detected bronchiectasis and irregular cross-sectional shape of the trachea, whereas diffuse bronchial thickening, consolidations, and pleural abnormalities were the main chest X-ray findings. Airway endoscopy is seldom included in the available studies, with tracheomalacia and tracheobronchial inflammation being described in a variable proportion of cases. A complete diagnostic approach to long-term respiratory complications after EA is mandatory. In the presence of moderate-to-severe airway disease, patients should undergo regular tertiary care follow-up with functional assessment and advanced chest imaging.

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH.