International Journal of Pediatric Otorhinolaryngology
Tracheal stenosis and congenital heart disease in patients with Down syndrome: diagnostic approach and surgical options☆
Introduction
Upper airway obstruction is a prevalent feature in patients with Down syndrome, and may be secondary to oropharyngeal hypotonia, adenotonsillar hypertrophy, macroglossia, micrognathia, reduced nasal airway, short broad neck, subglottic stenosis, or tracheal stenosis [11], [16]. Associated cardiopulmonary disease in these children may compound the effects of upper airway pathology. Often, these patients may have unrecognized airway lesions on presentation for evaluation and management of cardiac pathology.
Down syndrome is seen in 1/1000–1/700 live births, with increased incidence associated with advanced maternal age. The syndromic features are secondary to trisomy of chromosome 21 in most cases. In 4% of the cases, there is a translocation pattern, and 1% of the patients have mosaic trisomy 21 chromosomal patterns [13]. Common characteristics of patients with Down syndrome include craniofacial anatomy that may contribute to upper airway obstructive patterns. They may also have concomitant tracheobronchial and cardiac abnormalities.
The incidence of tracheal stenosis in children with congenital heart disease has been reported to be 1.2% [19]. It is also relatively common in patients with Down syndrome. Tracheal stenosis in these patients tends to be of the segmental type and is secondary to absent pars membranacea of the trachea, or complete tracheal rings [1].
We present two patients with Down syndrome and congenital heart disease who first demonstrated airway symptomatology at the time of cardiac surgery. Diagnostic laryngoscopy and rigid tracheobronchoscopy should be an integral component of the diagnostic evaluation. Radiologic evaluation, preferably magnetic resonance imaging (MRI), will rule out possibility of extrinsic tracheal compression secondary to vascular anomalies, or distal tracheobronchial pathology. Options for airway reconstruction include endoluminal tracheal stent placement, tracheal expansion utilizing autologous cartilage, slide tracheoplasty, and end-to-end anastomosis.
Section snippets
Case 1
A 2-week old female with Down syndrome presented for ligation of a patent ductus arteriosus (PDA). At the time of surgical repair, she was noted to have significant ventilatory difficulty requiring bronchoscopic airway evaluation. Urgent tracheobronchoscopy revealed a 2-cm length region of circumferential tracheal stenosis (approximately 3 mm in diameter), consistent with complete tracheal rings to the level of 1 cm above the carina. She was successfully extubated, but suffered intermittent
Case 2
A 5-month-old female with Down syndrome and no prior airway symptomatology underwent VSD closure, PDA ligation, and closure of a patent foramen ovale (PFO). She was recognized to be a difficult intubation, requiring a small (2.5-mm inner diameter) endotracheal tube and the inability to advance the tube to the appropriate length in the trachea. She developed ventilatory difficulty during cardiac surgery. Urgent bronchoscopy demonstrated a 3-cm length mid-tracheal pinpoint stenosis (approximately
Discussion
Multiple congenital anomalies are closely linked to Down syndrome. Cardiac malformations are found in 40% of these patients, a large number of whom will require cardiac surgery. Laryngeal and/or tracheal pathology as the source of airway obstruction is of particular concern, as it will inevitably be exacerbated by intubation of the airway. There is also an increased incidence of subglottic stenosis (6%) in these patients as compared with the general population [11], [13]. There are two possible
Conclusions
Tracheal stenosis is a rare entity in the general population. It is seen somewhat more frequently in patients with Down syndrome. These patients also tend to have other upper airway obstructive pathology such as nasopharyngeal, oropharyngeal, and subglottic compromise. These entities, combined with high incidence of cardiac disease, put these children at high risk for acute and chronic cardiopulmonary complications. Patients with Down syndrome and signs and symptoms of upper airway obstruction
References (19)
- et al.
Repair of congenital tracheal stenosis with free tracheal autograft
J. Thorac. Cardiovasc. Surg.
(1998) - et al.
Congenital stenosis of the trachea
Am. J. Surg.
(1964) - et al.
Airway stents: present and future
Clin. Chest Med.
(1995) - et al.
The use of expandable metallic wire stents for tracheobronchial obstruction in children
J. Ped. Surg.
(1995) - et al.
Surgical management of tracheal strictures
Surg. Clin. North Am.
(1988) - et al.
Subglottic stenosis and Down syndrome
Am. J. Otolaryngol.
(1990) - et al.
Diagnosis and management of pediatric tracheal stenosis
Otolaryngol. Clin. North Am.
(1995) Post-extubation stridor in Down's syndrome
Br. J. Anaesth.
(1983)- et al.
Hypoplastic trachea in Down's syndrome
Am. Rev. Respir. Dis.
(1993)
Cited by (0)
- ☆
This work was presented at the Southern California Chapter of the American College of Surgeons Annual Meeting, 22 January 2000, Huntington Beach, CA, USA.