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)

Parents of 751 children affected by cancer/leukemia, congenital heart disease, strawberry nevus or mental retardation have been investigated with respect to their reproductive history and their exposure to risk factors for spontaneous abortion. Differences between the four groups were established for the number of children in the sibship, the proportion of multigravidae and the spontaneous abortion rate among these women. The greatest differences were observed in the two groups of malformed children compared with the other two groups, being as marked in those with a severe malformation (heart defect) as in those with a benign one (strawberry nevus). Taking known risk factors for spontaneous abortion into account did not explain the observed differences. An etiological hypothesis is put forward which takes account of the high proportion of quantitative abnormalities of the karyotype associated with congenital heart disease and spontaneous abortion.
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PMID:Spontaneous abortions in sibship of children with congenital malformation or malignant disease. 26 88

This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.
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PMID:Report of a trisomy 8p infant with carrier father. 31 58

A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described. Nine children and one adult were evaluated. There is not race or sex predilection. The syndrome can be heritable, as shown by a mother and daughter who were among the patients. In addition to the four major components enumerated, multiple other anomalies may be associated. In some cases, the syndrome may occur incompletely. Whenever two or more of the four components are recognized, the other systems usually affected should be investigated.
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PMID:Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. 45 18

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
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PMID:Trisomy 14 mosaicism: case report and review. 47 33

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.
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PMID:[Carpenter's syndrome]. 60 89

A report is given of the occurrence of a ring chromosome 15 in a 5.6 year-old girl. The features of this case are mental retardation, small stature, microcephaly, malformation of the kidney, congenital heart disease and congenital dislocation of the hips. The features of this syndrome are very variable. Only 4 cases have been described up to 1975.
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PMID:[Ring chromosome 15 in a child (author's transl)]. 62 84

These are congenital diseases that may be seen occasionally, both in males as in females with the exception of Hunter's syndrome which is exclusive of the male sex. This possibility should be suspected before a patient with or without mental retardation and bony malformations. It must be kept in mind there is no medical treatment for their relief. However, recent studies have established a cause of effect relationship of metabolic disturbances of cycopolysaccharides and their accumulation in different tissues of the body, amongst them cartilages (chondrocytes), which would be responsible for the corresponding disturbances seen. Bony age was always found to be less than the chronological. Bony malformations may be corrected if disableness is prevented. Mental retardation was not present in every case and heart disease was diagnosed in only one case, although heart catheterism was practiced in 50% of all cases. Since heart lesion is the main cause of death, it should always be investigated. Clinics, x-rays and laboratory should always be the basis of the diagnosis.
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PMID:[Mucopolysaccharidosis. Radiological and clinical aspects]. 82 1

The carotid bodies from 71 patients ranging in age from 28 weeks' gestation to 30 years were obtained at autopsy. Patients were divided into two groups based on the presence or absence of chronic hypoxemia. There was a high correlation between the weight of individual carotid bodies in each case. Among the 12 patients with chronic hypoxemia, eight patients had carotid bodies heavier than predicted by statistical analysis. Of these eight patients, six had cystic fibrosis and two had cyanotic heart disease. Morphometric and cell population analyses of the carotid bodies from these eight patients and from those of the control population indicated that enlargement of the carotid bodies during normal or abnormal growth results from proportionate increases in lobule parenchyma and stroma. There was also an increase in the width and length of the lobules without an increase in the diameter of the cell cords or a change in the size or proportion of the chief cells. Growth and development of the carotid bodies were studied in a control group of 59 patients without chronic hypoxemia. There were no sex related differences in carotid body weights. The combined weight of the carotid bodies correlated most strongly with body weight, although there was some correlation with age and body length. A regression equation reflecting the data relating to body weight (BW) is: Combined weight of carotid bodies (in mg.) = 0.29 BW (in kg.) +3.0. Leukemic infiltrates were present in two patients with acute lymphocytic leukemia, and diffuse lymphocytic infiltration with nodule formation was present in one patient with mental retardation. Metaplastic cartilage was present in a carotid body of one patient.
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PMID:Carotid body hypertrophy in patients with cystic fibrosis and cyanotic congenital heart disease. 84 53

An eighth case of terminal deletion of the long arm of chromosome eleven (11q--) is reported to emphasize both the distinctive facies, but otherwise non-specific nature of this disorder, and the female preponderance of affected patients. Growth and mental retardation, congenital heart disease and telecanthus are the other most constant features. The authors' experience with 3 unrelated cases in less than 2 years suggests that this syndrome is underdiagnosed.
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PMID:The 11q -- syndrome. 84 73

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.
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PMID:Partial trisomy 22: a recognizable syndrome. 89 Oct 9


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