Journal List > Allergy Asthma Respir Dis > v.2(1) > 1059070

Song, Park, Kim, Choi, Song, Huh, Kang, Chung, Jeong, Son, and Ahn: Analysis of respiratory problems in CHARGE syndrome: a single center study

Abstract

Purpose

CHARGE syndrome consists of multiple malformation including coloboma, heart defect, choanal atresia, growth or developmental retardation, genital anomalies, and ear anomalies. The aim of this study was to evaluate the respiratory problems in children with CHARGE syndrome.

Methods

Out of 9 patients with CHARGE syndrome, medical records from 8 patients showing respiratory distress or respiratory failure were retrospectively reviewed. We investigated the causes of respiratory problems by physical examination, endoscopy, echocardiogram, computed tomography, rigid bronchoscopy, swallowing test, and 24-hour impedence monitoring.

Results

Five patients required endotracheal intubation soon after birth due to bilateral choanal atresia (n=2) and congenital heart diseases (n=3). Three patients were intubated within a month because of surgery for complex heart diseases (n=2) or recurrent apnea (n=1). Tracheostomy was performed in 3 patients who showed primary or secondary subglottic stenosis. Among 8 patients who had aspiration or respiratory distress after feeding, cricopharyngeal incoordination and gastroesophageal reflux disease were found in 7 and 2 children, respectively. One patient died of aspiration during oral feeding.

Conclusion

Patients with CHARGE syndrome manifest respiratory distress or failure due to various causes including congenital anomaly in the airway, cardiac anomaly, neurologic or gastrointestinal problems. Therefore, pediatricians should be alert to the respiratory symptoms and signs in CHARGE syndrome and take active intervention from the birth to improve their long-term prognosis.

Figures and Tables

Table 1
Clinical manifestation and anomalies in patients with CHARGE syndrome
aard-2-70-i001

PDA, patent ductus arteriosus; N/D, not done; TEF, tracheoesophageal fistula; ASD, atrial septal defect; PA, pulmonary atresia; C-AVSD, complete atrioventricular septal defect; DORV, double outlet right ventricle; CoA, coarctation of aorta.

Table 2
Respiratory problems in patients with CHARGE syndrome
aard-2-70-i002

LMS, laryngomicrosurgery; CT, computed tomography; CPI, cricopharyngeal incoordination; GER, gastroesophageal reflux; N/D, not done; PDA, patent ductus arteriosus; CHD, congenital heart disease.

References

1. Davenport SL, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet. 1986; 29:298–310.
2. Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr. 1979; 95:395–398.
3. Roger G, Morisseau-Durand MP, Van Den Abbeele T, Nicollas R, Triglia JM, Narcy P, et al. The CHARGE association: the role of tracheotomy. Arch Otolaryngol Head Neck Surg. 1999; 125:33–38.
4. Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981; 99:223–227.
5. August GP, Rosenbaum KN, Friendly D, Hung W. Hypopituitarism and the CHARGE association. J Pediatr. 1983; 103:424–425.
6. Byerly KA, Pauli RM. Cranial nerve abnormalities in CHARGE association. Am J Med Genet. 1993; 45:751–757.
7. Lin AE, Siebert JR, Graham JM Jr. Central nervous system malformations in the CHARGE association. Am J Med Genet. 1990; 37:304–310.
8. Meinecke P, Polke A, Schmiegelow P. Limb anomalies in the CHARGE association. J Med Genet. 1989; 26:202–203.
9. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004; 36:955–957.
10. Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS. Characterization of the CHD family of proteins. Proc Natl Acad Sci U S A. 1997; 94:11472–11477.
11. Delmas V, Stokes DG, Perry RP. A mammalian DNA-binding protein that contains a chromodomain and an SNF2/SWI2-like helicase domain. Proc Natl Acad Sci U S A. 1993; 90:2414–2418.
12. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006; 78:303–314.
13. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006; 43:306–314.
14. Cho HJ, Song MH, Choi SY, Kim J, Lee J, Kim UK, et al. Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Gene. 2013; 517:164–168.
15. Asher BF, McGill TJ, Kaplan L, Friedman EM, Healy GB. Airway complications in CHARGE association. Arch Otolaryngol Head Neck Surg. 1990; 116:594–595.
16. Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg. 1993; 119:49–54.
17. Senders CW, Navarrete EG. Laser supraglottoplasty for laryngomalacia: are specific anatomical defects more influential than associated anomalies on outcome? Int J Pediatr Otorhinolaryngol. 2001; 57:235–244.
18. Stack CG, Wyse RK. Incidence and management of airway problems in the CHARGE Association. Anaesthesia. 1991; 46:582–585.
19. Jung YJ, Kim YW, Kim HK, Yoon SW. A case of CHARGE syndrome. Korean J Otolaryngol-Head Neck Surg. 2000; 43:549–551.
20. Lee SH, Lee YW, Shin YL. Hypogonadotropic hypogonadism and abnormal olfactory bulb development in CHARGE syndrome with CHD7 mutation. J Korean Soc Pediatr Endocrinol. 2009; 14:68–72.
21. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998; 37:159–173.
22. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet. 1998; 76:402–409.
23. Wolach B, Weinberg J. A simple transnasal procedure for treating choanal atresia. Int J Pediatr Otorhinolaryngol. 1990; 19:185–188.
24. Harney MS, Russel J. Choanal atresia. In : Puri P, Hollwarth M, editors. Pediatric surgery: diagnosis and management. Berlin: Springer;2009. p. 223–228.
25. Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009; 135:543–547.
26. Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet A. 2007; 143A:1815–1820.
27. Blake K, MacCuspie J, Hartshorne TS, Roy M, Davenport SL, Corsten G. Postoperative airway events of individuals with CHARGE syndrome. Int J Pediatr Otorhinolaryngol. 2009; 73:219–226.
28. Froehlich P, Seid AB, Denoyelle F, Pransky SM, Kearns DB, Garabedian EN, et al. Discoordinate pharyngolaryngomalacia. Int J Pediatr Otorhinolaryngol. 1997; 39:9–18.
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