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)

Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this lysosomal storage disease is unknown.
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PMID:Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. 358 32

A 4-year-and-10-month-old girl was referred to the Child Development Center, Rhode Island Hospital, Providence, Rhode Island, USA, for evaluation because of mental retardation. She was found to have short stature, congenital heart disease and dysmorphic facial features. A chromosome analysis revealed an unbalanced translocation with trisomy of the distal part of the short arm of chromosome 2 (2p21----2pter). A balanced reciprocal translocation was identified in the maternal karyotype 46,X,t(X;2)(q28;p21). The phenotype of partial trisomy 2p is discussed.
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PMID:Partial trisomy 2p. 368 57

We report two sisters with mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. A female paternal cousin has the same anomalies, but without congenital heart disease. The chromosomes of these patients are normal and the parents are non-consanguineous.
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PMID:Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. 372 52

In 1814, George Maton, first recognized that a mild illness characterized by rash, adenopathy, and little or no fever was a discrete entity. Henry Veale, in 1866, named the disease rubella. The illness attracted little attention until 1942, when Norman Gregg noticed that first-trimester maternal rubella caused serious birth defects. The full spectrum and impact of rubella embryopathy remained unclarified until rubella virus was isolated in tissue culture in 1962 by two independent groups: Parkman, Buescher, and Artenstein; and Neva and Weller. Using the new tools of the virus laboratory, many investigators concentrated on the consequences of a severe rubella epidemic in 1964, which affected approximately 1% of pregnancies. Newly recognized transient manifestations of congenital rubella infection (CRI) include neonatal thrombocytopenic purpura, hepatitis, bone lesions, and meningoencephalitis and late-emerging sequelae such as diabetes mellitus and progressive rubella panencephalitis added to the cataract, heart disease, mental retardation, and deafness previously defined as due to CRI. Sharp contrasts were documented between the patterns of virus excretion and immune response of postnatal vs. congenital rubella. Licensure and widespread distribution of attenuated rubella virus vaccines in 1969 have prevented epidemic rubella. Pockets of illness remain, even in the United States. Continued effort will be required to eliminate the rubella problem.
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PMID:The history and medical consequences of rubella. 389 Jan 5

In these past 10 years, the usefulness of auditory brainstem response (ABR) has been demonstrated in the clinical evaluation of audiological or neurological disorders, and the absence of an ABR is commonly accepted as consistent with a peripheral hearing loss caused by middle or inner ear diseases. In this article, the authors report nine infants and children who had an absent or difficult to detect ABR at the first examination with subsequent normalization of ABR. Repeated otological examinations were always normal in these patients. The final diagnoses were delayed development, Waardenburg syndrome with congenital heart disease and epilepsy, healthy infant, infantile convulsion, mental retardation with history of low birth weight, in each case, and chromosomal aberration in four patients. The reason for normalization of ABR in our patients is not clear and is yet to be ascertained. However, the authors believe that neurological maturation rather than an improved primary peripheral disorder is responsible for the noted normalization of the ABR, because of the high incidence of neurological abnormalities in these patients.
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PMID:Normalization of poor auditory brainstem response in infants and children. 608 32

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

A survey of 875 disabled children in Norway aged 0-19, representing ten different disabling conditions, was carried out between January 1976 and December 1978. Parents of the disabled children were interviewed, medical records studied and the children examined. Mother's age, level of education, presence of disabled siblings, spouse's education and profession as well as emergency situations related to the disabled child's condition appeared to be factors influencing the mother's health and therefore inevitably the family's ability to cope with the situation. Social insurance seemed to have been granted in a rather haphazard way; only families of children suffering from hemophilia, mental retardation, spina bifida and cerebral palsy seemed to have received fairly adequate social insurance benefits. Families of children suffering from juvenile rheumatoid arthritis, asthma, congenital heart disease and epilepsy had received less social insurance assistance than those in the other groups. One-parent families had received more social insurance than others. Families with children who were totally dependent on their parents, who had several diagnoses or had spent much time in hospital, had also been granted more social insurance. Welfare benefits distributed by local authorities had mainly been given to families who were also receiving social insurance benefits and to families of children with brain damage. Almost half of all families expressed needs for welfare benefits which had not been met. Thus, there seemed to be an underconsumption of both social insurance and welfare benefits, particularly among some diagnostic groups.
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PMID:Aspects of living conditions among groups of disabled children and their families in Norway: family situation, mothers' health, financial assistance. 622 33

In two unrelated girls, each with severe mental deficiency and craniofacial dysmorphism, deletion of chromosome segment 1q4 had occurred de novo. These two observations together with seven others from the literature allow delineation of a syndrome, as follows. Growth retardation is marked at birth and remains beyond the 3rd percentile. Mental retardation is severe. Seizures are frequent. The cry may be unusually high pitched. Craniofacial dysmorphism includes brachymicrocephaly, a round and flat facies, a high forehead with a prominent metopic suture, thin and scarse hair, palpebral fissures slanted upward, hypertelorism and epicanthal folds, a bulbous nose with a flattened nose-bridge, a large and prominent philtrum, well-defined Cupid's bow, and retrognathia. Other malformations include various skeletal malformations, hypospadias with or without cryptorchidism, a consistent feature, and congenital heart disease in a third of the cases. The deletion occurred de novo in 8 out of the 9 cases. The breakpoint is, according to the several authors, in 1q42 or q43.
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PMID:[Distal 1q monosomy. 2 new cases and description of the syndrome]. 660 78

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case with those of previously reported patients, tetrasomy 9p appears to be a distinctive and clinically recognisable malformation syndrome.
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PMID:Tetrasomy 9p confirmed by GALT. 664 73

During the last 15 years, 34 children were treated for a brain abscess. 13 (38%) had cyanotic heart disease; 12 (35%) had an ENT infection. The standardized treatment protocol included puncture of the abscess and administration of antibiotic and antiedematous drugs. Postoperative permanent epidural monitoring of intracranial pressure and, in the last 5 years, repeated CT scans indicated if retapping the abscess or reinforcing the antiedematous treatment was necessary. In 7 out of these 34 cases the abscess had to be excised. Postoperative mortality rate was 6%. Overall mortality rate was 12%. Neurological sequelae were slight. Epilepsy frequency was 10%. Mental retardation (18%) was found only in cyanotic congenital heart disease to which it is related. Repeated CT scans demonstrated the progressive disappearance of the capsule within a few months. This study shows an improvement in the results when brain abscesses in children are punctured rather than excised.
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PMID:Brain abscess in childhood. A study of 34 cases treated by puncture and antibiotics. 688 27


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