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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifteen patients with CHARGE syndrome are described, nine sporadic and six familial. A recognizable pattern of malformations is present which appears to constitute a syndrome rather than a non-random association. In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency. A square facial appearance with asymmetry and malar flattening is characteristic, and long philtrum or prominent nasal columella may be present. Characteristic external ear anomalies and a 'wedge'-shaped audiogram may be unique to this syndrome. Short stature and hypogonadism with genital hypoplasia is pituitary or possibly hypothalamic in origin. Each feature varies from normal to severe involvement including mental function, and no single feature appears to be necessary for diagnosis.
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PMID:The spectrum of clinical features in CHARGE syndrome. 242 47

CHARGE association is a recently described cluster of congenital defects including ocular coloboma, heart disease, choanal atresia, retarded development and/or CNS abnormalities, genital hypoplasia, and ear anomalies. Although congenital hearing loss has been reported in CHARGE association, no information regarding the underlying temporal bone disease is available in the literature to date. The authors evaluated four patients with multiple anomalies consistent with CHARGE syndrome. Two surviving patients have bilateral severe hearing loss on auditory brain stem response testing. Two patients did not survive, and their temporal bones were obtained at autopsy for histologic examination. All four temporal bones showed severe middle ear defects including ossicular deformities, absence of the stapedius muscle, absence of the oval window, aberrant course of the facial nerve, and dehiscence of the facial nerve canal. In the more severely affected case, a Mondini-type malformation of the cochlea was present, together with multiple anomalies of the vestibular apparatus. Vestibular defects also occurred in the other case; however, the cochleae were found to be normally developed.
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PMID:Auditory and temporal bone abnormalities in CHARGE association. 349 Feb 1

CHARGE syndrome (coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss) is a heterogeneous condition for which early prediction of intellectual outcome is important but difficult. The psychomotor milestones and intellectual outcome of a consecutive series of children with CHARGE syndrome who were observed by the same team from the neonatal period to the time of study were analyzed retrospectively. Twenty-one children (11 males and 10 females, aged from 5 to 12 years, mean 8 years 7 months, SD 2 years 5 months) were included. The influence of 19 early identifiable parameters that could be considered as deleterious for intellectual outcome was recorded. Generally, the main psychomotor milestones (0 to 4 years) were severely delayed, although intellectual outcome (at primary-school age) was satisfactory for half the children in this series. We show that extensive bilateral coloboma resulting in low vision, microcephaly, and brain malformation were the only three parameters that were predictive of poor intellectual outcome. Conversely, severe neonatal medical conditions, such as tracheotomy, conditions requiring long stays in hospital, or cardiac surgery were not predictive of poor intellectual outcome. Severe hearing loss was not found to be negatively correlated with intellectual outcome once coloboma had been taken into account.
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PMID:Early prognostic factors for intellectual outcome in CHARGE syndrome. 1282 3

CHARGE syndrome refers to an autosomal dominant disorder in patients with coloboma (C) of the eye, heart disease (H), atresia of choanae (A), retarded growth (R), genital hypoplasia (G), and ear anomalies (E). In addition to these typical features, airway abnormalities, including retrognathia, glossoptosis, and laryngeal paralysis, have been reported in patients with this syndrome. This report describes a case of CHARGE syndrome observed in a 6-year-old male patient with a difficult airway, in whom anesthesia was managed successfully using a laryngeal mask airway.
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PMID:Successful airway management with use of a laryngeal mask airway in a patient with CHARGE syndrome. 1992 84

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.
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PMID:Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association. 2070 74

We report the case of a 15-year-old girl who presented to a pediatric endocrinology clinic for delayed puberty with no signs of secondary sexual development. Her past medical history was significant for bilateral colobomas, inner-ear anomalies, hearing loss, and anosmia. Genetic testing revealed a novel de novo mutation in the CHD7 gene, one of the causative genes in CHARGE syndrome (coloboma, heart disease, choanal atresia, retarded growth and development and/or central nervous system anomalies, genital anomalies and/or hypogonadism, and ear anomalies and/or deafness). We review the distinction between hypogonadotrophic hypogonadism and hypergonadotrophic hypogonadism and discuss the availability of molecular genetic testing for idiopathic hypogonadotrophic hypogonadism. CHD7 mutations have also been found in some patients with Kallmann syndrome, hypogonadotrophic hypogonadism, and anosmia, and we discuss the overlap between this syndrome and CHARGE syndrome. With the increased availability of genetic testing for a variety of disorders, it is important for pediatricians to become familiar with interpreting genetic test results. Finally, we illustrate that Bayes' theorem is a useful statistical tool for interpreting novel missense mutations of unknown significance.
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PMID:Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. 2104 Dec 84

CHARGE syndrome is a condition that has historically been diagnosed on the basis of the clinical findings of coloboma, heart disease, choanal atresia, restricted growth, and/or central nervous system anomalies, genital hypoplasia, and ear anomalies and/or deafness. Recently, researchers have discovered a genetic link, specifically, a strong association between the CHARGE phenotype and a mutation of the CHD 7 gene on the long arm of chromosome 8. Diagnosis now can be confirmed but not excluded with a positive mutation of this gene. This article offers an explanation of the diagnostic process as well as a description of the physical assessment and corresponding clinical implications of CHARGE syndrome in the neonatal population.
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PMID:CHARGE syndrome: diagnosis and clinical management in the NICU. 2318 39

This case describes the first pediatric case of metastatic papillary thyroid carcinoma (PTC) to the cerebellum as the presenting sign of cancer in a child with CHARGE syndrome and complex congenital heart disease. Diagnostic radiation exposure as a strong risk factor for PTC is discussed.
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PMID:Cerebellar metastatic papillary thyroid carcinoma in a pediatric patient with complex congenital heart disease. 2332 71

Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly. Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia. These cases may be more difficult to diagnose. In this report, we add 28 MWS patients with molecular confirmation of ZEB2 mutation, including seven with an uncommon presenting feature. Among the "unusual" patients, two patients had clinical features of charge syndrome including choanal atresia, coloboma, cardiac defects, genitourinary anomaly (1/2), and severe intellectual disability; two patients had craniosynostosis; and three patients had mild intellectual disability. Sixteen patients have previously-unreported mutations in ZEB2. Genotype-phenotype correlations were suggested in those with mild intellectual disability (two had a novel missense mutation in ZEB2, one with novel splice site mutation). This report increases the number of reported patients with MWS with unusual features, and is the first report of MWS in children previously thought to have CHARGE syndrome. These patients highlight the importance of facial gestalt in the accurate identification of MWS when less common features are present.
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PMID:CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. 2609 73

In Genetics Out-patient Department of Shanghai Children's Medical Center, we consulted a 3-year-old boy with multiple anomaly syndrome (congenital heart disease, cryptorchidism, congenital deafness, mental retardation, exophthalmos, laryngeal cartilage dysplasia and high arched palate). We ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs, and CHD7 is the only known gene associated with the syndrome. Sequencing analysis of CHD7 of the proband identified a de novo heterogeneous mutation (c.2916_2917del, p.Gln972HisfsX22), a two-nucleotide deletion causing reading frame shift and resulting in a truncated CHD7 protein. Computational structure analysis suggests that the truncated protein only contains the chromodomains of CHD7, but lacks the SWI2/SNF2-like ATPase/helicase domain and the DNA binding domain, which are indispensable for the proper function of the protein, especially on chromatin remodeling. The patient then received follow up treatment in different clinical departments in a long period. To our best knowledge, this is the first CHARGE syndrome in Chinese patients diagnosed by gene analysis. In summary, the clinical symptoms and the description of treatment in the present case, combined with genetic test and functional prediction of CHD7, are helpful for further understanding and genetic counseling of the CHARGE syndrome.
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PMID:A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. 2560 31


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