A newborn with transposition of the great vessels and long-segment tracheal stenosis

1. Introduction 

Pediatric patients with congenital heart defects frequently have other organ anomalies [1]. Diagnostic work-up is critical in patients with airway symptomatology due to the infrequent association of congenital heart defects with upper airway malformations.

Here, we present a case of a full term newborn diagnosed with transposition of the great vessels and several other anomalies, who was later diagnosed with long-segment tracheal stenosis after a prolonged period of respiratory distress.

2. Case report 

The patient was born vaginally at 40 weeks gestation after an unremarkable pregnancy and no detected fetal anomalies on prenatal screening exams. APGAR scores at 5 and 10min were 8 and 8, and the birth weight was 3540g. On physical exam dysmorphic features including bilateral microtia, ear canal atresia, broad nasal bridge, and a barrel shaped thorax were noted.

About 15–20min after delivery the baby appeared cyanotic. The patient's oxygen saturations stayed between 70 and 85% despite delivery of high FiO2. An echocardiogram revealed transposition of the great vessels with a ventricular septal defect and pulmonary artery stenosis.

Due to inadequate oxygenation the patient was intubated and a balloon-septostomy was performed on day 4 of life. Hypocalcemia was treated with a calcium infusion for 2 weeks. In view of the anatomic abnormalities and the dysmorphic features the diagnosis of a chromosome 22q11 defect (velocardiofacial syndrome) was suspected. Cytogenetics and FISH analysis revealed the chromosomes were 46, XY. No microdeletion of 22q11.2 was found.

On day 5 of life, the patient was extubated and transitioned to CPAP. The echocardiogram continued to show significant pulmonary stenosis which led to the decision to place a modified Blalock–Taussig Shunt rather than perform an arterial switch operation. The patient was extubated 4 days after the procedure and showed no significant respiratory problems. The oxygen saturation was 80–90% in room air. Due to frequent vomiting episodes and dysphagia, the patient continued on nasogastric tube feedings. Further imaging revealed a gastrointestinal malrotation, mild bilateral hydronephrosis, grade I ureteric reflux and a bladder diverticulum. A head ultrasound was normal.

Leaving the ICU on day 13 of life the patient did well on nasogastric tube feeds. After a few days the patient developed symptoms of an upper respiratory tract infection and required frequent suctioning and intermittent oxygen via nasal canula to maintain oxygen saturations above 80%. After about 2 weeks of nasal congestion and increased secretions, the patient acutely worsened and required emergency intubation. During the oral intubation it was noted that the endotracheal tube size 3.0mm did not advance further than 9cm. This prompted an immediate flexible bronchoscopy which showed significant narrowing below the ET tube. The bronchoscope (2.5mm) could not be advanced to visualize the carina. A CT of the chest (Fig. 1) showed severe stenosis of the trachea for greater than 3/4 of its length. The right mainstem bronchus was stenotic to the point that it could not be visualized. The right lung was fully inflated and the left mainstem bronchus appeared normal.

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Fig. 1. Chest CT. Major stenosis of the trachea for greater than 3/4 of the length. The right mainstem bronchus is stenotic. The right lung is fully inflated. The left mainstem bronchus appears normal.

The family was offered the option of long-segment slide tracheoplasty but, in view of the constellation of all congenital anomalies, a decision was made not to attempt repair of the tracheal stenosis. The family decided to withdraw care. The patient soon thereafter died. An autopsy was not performed.

3. Discussion 

Congenital tracheal stenosis (CTS) has been well described in pediatric patients with congenital cardiac anomalies [1]. It is an infrequent diagnosis and represents 0.3–1% of all cases of laryngo-tracheal stenosis [2]. There exists no standard grading system for long-segment tracheal stenosis but there are at least four elements that imply severity. The lesion is usually described by the narrowness of the trachea, the length of the abnormal trachea, the involvement of the bronchi and the presence or absence of complete tracheal rings. Long-segment tracheal stenosis (LSTS) classically implies a lesion >2/3 of the tracheal length [3].

CTS is not synonymous with complete tracheal rings although the association is common, particularly in LSTS. CTS has been described as a wide spectrum of pathologies with diverse clinical expression, from simple stridor to life threatening episodes of apnea or worse, a complete inability to ventilate at all, thus requiring immediate ECMO support [4]. Most cardiac patients present early with respiratory symptoms and get diagnosed prior to any cardiac intervention. If that is not the case, failure of early postoperative extubation is a prominent clinical sign that should prompt airway evaluation, particularly in children with an underlying syndromic disease [5].

Associated anomalies are present in more than 80% of the patients of which at least 40% have a cardiac/vascular defect. Pulmonary artery sling, ASD and VSD make up the most common cardiac lesions. Greater than 50% of the patients display more than one associated anomaly such as esophageal atresia, skeletal malformations, hypospadias and anorectal anomalies [2], [6], [7]. The combination of malformations observed in our patient has not been described in the literature to date.

Tracheo-bronchoscopy is the preferred diagnostic tool. Spiral computed tomography with multiplanar reconstruction and magnetic resonance imaging are also very useful in the work-up [3]. At our center, three-dimensional reconstruction of airway computed tomography is routinely used in LSTS for grading purposes. The optimal technique to repair CTS remains controversial, and a number of different techniques have been utilized. For very short segment stenosis, primary resection and end-to-end anastomosis is the treatment of choice. For medium length stenosis (<2/3 trachea), slide tracheoplasty appears to be the preferred initial treatment [3]. The greatest controversy remains for patients with long and very long-segment stenosis. Depending on the length of the lesion, resection with or without slide tracheoplasty can be the first option. In more severe cases, especially with bronchial involvement, some form of patch tracheoplasty is usually indicated although extended slide bronchotracheoplasty has been described [2], [3], [8], [9]. Tracheal allograft implantation is essentially a variant of patch tracheoplasty and should be reserved for those patients who failed previous repairs [3].

The current literature advocates simultaneous management of tracheal stenosis and cardiac anomalies [7]. The overall mortality rate for patients with slide tracheoplasty is reported between 9 and 12% [2], [3] and for cartilage tracheoplasty 26% [3]. Morbidity and mortality increases significantly in the individual case depending on the associated lesions and the severity of those defects.

Our patient presented with a combination of several severe malformations including the transposition of the great vessels with pulmonary stenosis, long-segment tracheal stenosis with bronchial involvement and gastrointestinal malrotation. The family was provided with all risks and benefits of cardio-tracheal surgical intervention but opted for expectant care given their child's multiple comorbidities.

4. Conclusion 

Congenital tracheal stenosis has been described in children with congenital cardiac defects. It is an uncommonly associated malformation but could possibly, depending on the severity of the lesion, lead to life threatening events. Stridor, respiratory symptoms, and extubation failure should prompt further work-up. Underlying genetic and syndromic disease should raise the suspicion even further for airway anomalies. A simultaneous management of congenital tracheal stenosis and cardiac anomalies is recommended and the results to date show acceptable mortality and morbidity. There are cases where the severity of the lesion in association with other anomalies increases the mortality associated with repair. In the family centered model of care, risks and benefits of high mortality procedures should be fully explained to families so that appropriate personal value-based decisions can be made.