Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study reviews the spectrum of congenital heart disease and associated anomalies in 59 patients with the CHARGE association. We have analyzed our clinical experience in managing the cardiovascular anomalies and have reviewed outcome and risk factors for mortality. This study also highlights problems of cardiac management in children born with multiple system involvement. Twenty patients have died; actuarial survival was 78% at 1 year and 60% at 10 years. In only four of the nonsurvivors could their demise be ascribed to their underlying congenital heart disease. We found the outlook for survival was poor if more than one of the following three features were present; cyanotic cardiac lesions, bilateral posterior choanal atresia, or tracheoesophageal fistula. However, mortality was largely due not to the structural heart or choanal abnormalities, but instead reflected the underlying pharyngeal and laryngeal incoordination which resulted in aspiration of secretions. Furthermore, outcome is likely to be improved if collaboration between specialist surgical teams allows necessary procedures to be performed using the minimum of anesthetics. Examination of both the short- and long-term management of these children has stressed the importance of a multidisciplinary approach to their care. The pattern of cardiac defects was not random; lesions within the Fallot spectrum accounted for 33% of their congenital heart disease. Atrioventricular septal defects were also overrepresented. Not all cardiovascular defects could be explained by hypothesizing a neural crest etiology.
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PMID:Congenital heart disease in CHARGE association. 846 35

CHARGE association is a non-random constellation of Coloboma, Heart Disease, Atresia of the choana, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness. We report on a newborn with CHARGE association. In addition to the typical features our case presented anal atresia and rectovaginal fistula. Our patient had congenital cardiopathy and feeding problems and died at the age of 3 months. Most case of CHARGE association appear to have a primary defect of pharyngeal incoordination that cause aspiration of secretion that is an important cause of death in the nonsurvivors.
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PMID:[CHARGE association: report of a clinical case with anal atresia and rectovaginal fistula]. 959 89

Clinical experience of 11 patients with CHARGE association is reviewed. The study comprised six girls and five boys. All presented with congenital heart disease. Eight had bilateral choanal atresia. Coloboma affecting either one or both eyes was detected in nine children. Nine patients suffered abnormal pinnae or deafness. In addition to major abnormalities, further anomalies of the orofacial region and the upper airways occurred in all patients. All children exhibited velopharyngeal incoordination and swallowing problems often resulting in recurrent aspiration pneumonia. Three patients had cleft lip and palate. Both micrognathia and high-arched palate were present in two patients. Facial palsy was observed in six patients. Optimal management requires a multidisciplinary approach with active coordination and cooperation between the appropriate specialties. The anatomical repair of bilateral choanal atresia should be performed as early as possible. In our experience, the transpalatal approach is far more satisfactory than the transnasal. It gives the surgeon the opportunity of direct access and anatomical repair. After the child has grown stronger, a long-term management is desirable including developmental and feeding training.
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PMID:[Clinical manifestations of CHARGE association in the area of the mouth, jaw and face]. 1090 Sep 61