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The CHARGE association: the role of tracheotomy Roger G; Morisseau-Durand MP; Van Den Abbeele T; Nicollas R; Triglia JM; Narcy P; Abadie V; Manac'h Y; Garabedian ENArch Otolaryngol Head Neck Surg 1999[Jan]; 125 (1): 33-8OBJECTIVES: To evaluate the need for a tracheotomy and its timing during the evolution of an association of malformations, including coloboma, heart defects, choanal atresia, developmental and growth retardation, genitourinary malformation, and ear anomalies (CHARGE association). DESIGN: Retrospective study from January 1988 through December 1997. SETTING: Four academic tertiary care centers. PATIENTS AND METHODS: Forty-five patients with CHARGE association having at least 3 cardinal malformations (growth retardation excluded) and review of the malformations and respiratory manifestations encountered. All the patients underwent endoscopic exploration on several occasions. We reviewed the nature and the timing of therapeutic interventions performed on the airway. RESULTS: Two patients died (one patient of septicemia, the other of unknown causes). Abnormalities of blood gas levels and/or sleep were found in 30 patients (67%), were responsible for cardiorespiratory arrest in 9 (20%), and required admission to the intensive care unit in 21 (47%). Pharyngolaryngeal anomalies leading to dyspnea (discoordinate pharyngolaryngomalacia, glossoptosis, retrognathia, laryngeal paralysis, cleft, stenosis, and difficult intubation) were found in 26 patients (58%). Tracheobronchial anomalies (esophagotracheal fistula, esophageal atresia, and tracheomalacia) were present in 18 patients (40%). Resection of the aryepiglottic folds was attempted 3 times, but without success. Tracheotomy was necessary in 13 patients (29%) at a median age of 2.4 months (mean duration, 25 months). Among these infants, the posterior nasal choanae were patent in 10 patients at the time of tracheotomy. Gastroesophageal reflux was encountered in 36 patients (80%). Prolonged enteral feeding was necessary in 21 patients (47%), with gastrostomy in 16 (of whom 9 needed a tracheotomy). These feeding difficulties and airway problems were highly correlated. CONCLUSIONS: We encountered multiple, complicated airway abnormalities. Resection of aryepiglottic folds was inadequate. Often, a tracheotomy could not be avoided in these patients, regardless of choanal patency. Tracheotomy needs to be performed early to avoid hypoxic events. In some selected patients, ventilation using bilevel positive airway pressure may be an alternative.|*Tracheotomy[MESH]|Abnormalities, Multiple/*genetics/mortality/therapy[MESH]|Airway Obstruction/*genetics/mortality/therapy[MESH]|Cause of Death[MESH]|Child[MESH]|Child, Preschool[MESH]|Choanal Atresia/*genetics/mortality/therapy[MESH]|Coloboma/*genetics/mortality/therapy[MESH]|Female[MESH]|Follow-Up Studies[MESH]|Heart Defects, Congenital/*genetics/mortality/therapy[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Retrospective Studies[MESH]|Treatment Outcome[MESH] |
