Archives ofDisease in Childhood 1990; 65: 217-223 217 Arch Dis Child: first published as 10.1136/adc.65.2.217 on 1 February 1990. Downloaded from Who's in CHARGE? Multidisciplinary management of patients with CHARGE association K D Blake, I M Russell-Eggitt, D W Morgan, J M Ratcliffe, R K H Wyse Abstract that patients should exhibit at least four of the Clinical experience of 50 patients with the major abnormalities listed by Pagon et al.2 CHARGE association is reviewed and prob- Detailed information on the precise range of lems with management of children born with abnormalities presented by each patient as well multiple system involvement is highlighted. It as their medical and surgical management was was found that the outlook for survival was stored on an Amdahl mainframe computer. poor if more than one of the following three Data was analysed using an SAS statistical features was present: cyanotic cardiac package and employing X2 and Kaplan-Meier lesions, bilateral posterior choanal atresia, or actuarial survival analysis as appropriate. tracheo-oesophageal fistula. Mortality was largely due not to the structural heart defects or choanal abnormalities, but reflected under- Results lying pharyngeal and laryngeal incoordina- ACTUARIAL SURVIVAL ANALYSIS tion, which resulted in aspiration of secre- Of the 50 patients with CHARGE association, tions. Outcome is likely to be improved if col- 13 have died (nine boys and four girls). laboration between specialist surgical teams Actuarial survival analysis (fig 1) was 70% at allows necessary procedures to be performed five years and showed that, of those who died, using the minimum number of anaesthetics. most succumbed in the first year of life. Three Examination of both the short and long term patients died as neonates, seven died between management of these children has stressed 1 month and 1 year of age, and three died the importance of a multidisciplinary between 1 and 5 years of age. Seven of these 13 approach to their care. patients (54%) died of aspiration. Considering that a further five patients had either with- drawal of support or sudden death (cause CHARGE association was first described by unknown), aspiration of secretions may clearly Hall et al in 1979,' but the acronym CHARGE represent the major incremental risk factor (Colobomata, Heart defect, choanal Atresia, (table 1). http://adc.bmj.com/ growth and/or developmental Retardation, Genital hypoplasia, Ear abnormalities) was initially coined by Pagon et al in 1981.2 Since SURGICAL MANAGEMENT then it has become clear that facial palsy, renal Thirty two patients presented with cyanosis, abnormalities, orofacial clefts, and oesophageal which was due to congenital heart disease in 12, atresia frequently accompany the main choanal atresia in 12, and to a combination of features.3 4Despite extensive description of the heart disease and choanal atresia in eight. on September 24, 2021 by guest. Protected copyright. features that comprise the CHARGE acronym, there have been virtually no reports of the man- agement, outcome, and survival of these 100- Department of patients. As the number of patients with Paediatric Cardiology, CHARGE association who have attended this Institute of 80- Child Health, hospital far exceeds any published series, we felt 21 10 3 Survival London it appropriate to describe our K D Blake multidisciplinary R K H Wyse experience in the clinical management of these 4c 60- Hospital for patients. We also felt it important to consider, Sick Children, from all the clinical specialities that inevitably London, become involved in the management of these Ophthalmology O 40- Department patients, which team should be in charge of I M Russell-Eggitt organising long term care? 12 Ear, Nose, and 20- 6 Throat Department First surgery D W Morgan Patients and methods Respiratory Unit The study comprised 50 patients with 0J I I J M Ratcliffe CHARGE association; 29 were boys and 21 0 2 4 6 8 10 12 14 16 18 Correspondence to: were girls. All patients were referred from Years Dr R K H Wyse, Department of district general hospitals to one of the following Figure I Upper curve: Kaplan-Meier actuarial survival of Paediatric Cardiology, departments within this institution: cardiology, 50patients with CHARGE association. Numbers along the Institute of Child Health, curveportray how many patients were still beingfollowed up. 30 Guilford Street, respiratory medicine, gastroenterology, ear, Lower curve: actuarial analysis ofthe time elapsed before London WC1 IEH. nose, and throat, ophthalmology, and genetics. each patient with CHARGE association required theirfirst Accepted 11 September 1989 The criteria for inclusion in this study required surgicalprocedure. 218 Blake, Russell-Eggitt, Morgan, Ratcliffe, Wyse Table I Details of The actuarial probability of patients with Table 3 Outcome children who died (n=13) Arch Dis Child: first published as 10.1136/adc.65.2.217 on 1 February 1990. Downloaded from CHARGE association requiring at least one Abnormality Total Alive Dead % No of major surgical intervention is shown in fig 1. or risk No Mortality patients Twenty six patients (52%) required surgery as factor Died< 1 month neonates (table 2). By 1 year of age nearly three Bilateral choanal atresia 16 9 7 44 postoperatively 7* quarters of the patients had undergone some Cyanotic heart disease Died of aspiration presenting in first week 21 10 11 52 pneumonia 2 form of major surgery and a further five have Bilateral choanal atresia Decision to adopt no needed a general anaesthetic for 'minor' and cyanotic heart active treatment 1 disease 7 1 6 86 Sudden death: cause procedures. Tracheo-oesophageal unknown 3 atresia and fistula 5 2 3 60 The 50 patients in the study have so far Tracheo-oesophageal *These seven children died required 114 major surgical procedures (aver- fistula and bilateral from aspiration (n=5), dis- age: 2-3/patient). Patients with bilateral post- choanal atresia 2 0 2 100 seminated intravascular coa- Tracheo-oesophageal gulation from sepsis (n= 1), erior choanal atresia received proportionally fistula and cyanotic heart and withdrawal of treatment disease 4 1 3 75 more surgical procedures (2-8/patient) and Given prostagladin E2 8 1 7 87 (n= 1). investigations under general anaesthetic (4 7/ Tracheostomy 7 4 3 43 patient) than the remainder who required only 1-6 surgical procedures/patient and 3-3 investigations/patient. Only two patients have not required any CONGENITAL HEART DISEASE surgery; in contrast, two patients have needed Congenital heart disease was present in 42 eight major operations. Although reoperations (84%) patients; the other eight had normal were predominantly for choanal dilatation, hearts. The range of cardiac malformations cardiac repair, or insertion of grommets, a varied but there was a preponderance of right number of patients required genitourinary, sided lesions. Thirty patients had major con- ophthalmic, or plastic surgery. Six patients genital heart disease (defined as requiring underwent repair of cleft palate, three patients surgery) (table 4), six ofwhom also had aberrant had operations for skeletal abnormalities, one subclavian arteries. needed aspiration of a cerebral abcess, and Patent ductus arteriosus was associated with another required excision of occipital encepha- severe cardiac lesions in 19 patients: 13 were locele. large enough to require surgical closure, five Furthermore, there were 12 Nissen fundopli- closed spontaneously, and in one patient, who cation operations for gastro-oesophageal reflux subsequently died, it was not treated at the or formation of a feeding gastrostomy and seven request of the parents. patients needed a tracheostomy. Four patients Twelve patients had (haemodynamically) required both operations and, although these comparatively mild heart defects: either a small four may have been expected to have the most atrial or ventricular septal defect, pulmonary severe defects, none of them had bilateral post- stenosis, patent ductus arteriosus, or a combina- erior choanal atresia. tion of these. Half of the children who survived more than http://adc.bmj.com/ one year had needed at least one operation for myringotomies, a third required microlaryn- RESPIRATORY PROBLEMS gobronchoscopy (average of two repeats/ Twenty eight (56%) patients had choanal atresia patient), a quarter needed some form of eye or stenosis and 19 (38%) had no defect; three surgery, and nearly a quarter of the boys had were not examined. orchidopexy. Sixteen patients had bilateral posterior We found that patients with CHARGE choanal atresia (BPCA), and a high proportion on September 24, 2021 by guest. Protected copyright. association had a high postoperative mortality. of these (nine of 16, 56%) also had facial palsy. There was no correlation with the type of surgery, but of those who died all had at least three general anaesthetics before death, includ- Table 4 Range of congenital heart disease in patients ing one patient who had 12. requiring cardiothoracic surgery (n=30) It was not possible by retrospective analysis to predict with certainty those patients who Congenital heart defect No ofpatients represented a high operative risk (table 1) but Tetralogy of Fallot 4 Fallot with AVSD 4 certain combinations of features seemed to pre- Failot with Ebstein's anomaly 1 dispose to a poor outcome, particularly bilateral AVSD alone 2 AVSD with DORV 1 posterior choanal atresia combined either with AVSD with TAPVC 1 cyanotic heart disease or trahceo-oesophageal Pulmonary atresia/VSD 2 DILV