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)

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.
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PMID:Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. 616 37

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

Kawasaki Disease (KD) is a vasculitic disease and can affect any organ system in the body. The development of coronary artery aneurysms is the most common and life threatening complication of KD and makes this disease the leading cause of acquired heart disease in children in the developed world. Facial nerve palsy has been reported as a possible marker of more severe disease and increased risk of coronary artery involvement in KD. Herein, the authors report an 8-mo-old infant who had left sided facial nerve palsy and multiple coronary aneurysms associated with KD.
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PMID:Facial nerve palsy and Kawasaki disease. 2342 32