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)

Three women with neurohypophyseal diabetes insipidus, treated for prolonged periods, including pregnancy, with L-deamino-8-d-arginine vasopressin, gave birth in our hospital. Two of the infants had severe congenital heart disease, one of which was associated with trisomy 21. The third baby, born prematurely, presented with mild intrauterine growth retardation; at the age of 21 months, the boy had severe failure to thrive, hypotonia, and motor retardation. These three cases raise doubts as to the safety of diabetes insipidus or its treatment in pregnancy.
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PMID:L-deamino-8-d-arginine vasopressin treatment in pregnancy and neonatal outcome. A report of three cases. 371 35

Four infants with Down syndrome developed cor pulmonale and heart failure in association with chronic upper airway obstruction. Features of the sleep apnea syndrome were conspicuous; namely, noisy breathing with retraction, cyanosis and frequent apnea during sleep, and daytime lethargy and somnolence. The clinical picture masqueraded as cyanotic congenital heart disease. Arterial blood gas analyses revealed alveolar hypoventilation, especially during sleep. The nature of the obstructive element was variable. Adenoidectomy provided partial relief in one patient, and tonsillectomy and adenoidectomy resulted in temporary improvement in two others. Three patients were markedly benefitted by tracheostomy. Functional inspiratory pharyngeal closure was demonstrated fluorographically in one patient. Infants with Down syndrome may be predisposed to upper airway obstruction by virtue of hypoplasia of facial and oropharyngeal structures and generalized hypotonia. Additional obstructive elements may be contributed by hypertrophied lymphoid tissue, excessive secretions, and glossoptosis. Removal of the obstructive element is helpful, but functional obstruction may only be relieved by tracheostomy.
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PMID:Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. 645 3

A male infant showed features of the Prader-Willi syndrome (including profound hypotonia, cryptorchidism, and mildly dysmorphic facial appearance) but also had additional multiple malformations (congenital heart disease, unilateral renal malmigration, and bifid uvula). A deletion of the long arm of chromosome 15, larger than that usually demonstrated in children with Prader-Willi syndrome, was found. The cytogenetic findings suggest that the infant's hypotonia and cryptorchidism are explicable on the basis of the portion of the deletion usually associated with Prader-Willi syndrome (q11 to q12) but that his other features could be secondary to effects of the more distal region of the deleted segment (q13 to q15).
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PMID:'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion. 663 12

A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardiopulmonary symptoms were caused by persistent fetal circulation. Previously, four authors have independently reported cardiopulmonary symptoms in association with lithium intoxication without finding cardiac or pulmonary disease. The similarity between the present and the four earlier reported cases in regard to the symptoms and the course of illness, raises the question of the connection between lithium intoxication and persistent fetal circulation being more than coincidental. In view of recent investigations it is speculated that lithium intoxication in utero may result in the pulmonary vascular changes responsible for the persistence of fetal circulation.
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PMID:Persistent pulmonary hypertension after lithium intoxication in the newborn. 712 40

A 5-month-old female with the Coffin-Siris syndrome is described. Characteristic features included prenatal and postnatal growth retardation, slight mental retardation, feeding and respiratory problems, microcephaly, hypotonia, full lips, congenital heart disease, hypoplasia of the distal phalanges of the fifth fingers and toes. She underwent successful primary closure of a ventricular septal defect at 8.5 months of age, weighing 5.0 kg. After the operation, the feeding and respiratory problems disappeared, and growth and development were well maintained.
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PMID:The Coffin-Siris syndrome: a case report. 719

A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), "rocker bottom" feet, flat occiput and muscular hypotonia. The parents are healthy and with normal karyotypes. A silent allele in the GPT system was found in the mother, the propositus and 4 of the 5 siblings.
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PMID:Partial deletion of the short arm of chromosome 3. 722 94

Cri du chat syndrome is an inherited disease affecting multiple organ systems. Most characteristic is the anatomical abnormality of the larynx resulting in a cat-like cry. Issues important in developing an anaesthetic plan include: anatomical abnormalities of the airway, congenital heart disease, hypotonia, mental retardation, and temperature maintenance. We report the case of a 33-month-old patient with cri du chat syndrome undergoing patent ductus arteriosus (PDA) ligation and discuss the anaesthetic issues.
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PMID:Anaesthetic considerations for the patient with cri du chat syndrome. 748 25

Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human aneuploidy. Although usually caused by the presence of an extra chromosome 21, subsets of the phenotypic features of DS may be caused by the duplication of small regions of the chromosome. The physical map of chromosome 21 allows the molecular definition of the regions duplicated in these rare cases of partial trisomy. As a first step in identifying the genes responsible for individual DS features and their pathophysiology, a panel of cell lines derived from 16 such individuals has been established and the molecular break points have been determined using fluorescence in situ hybridization and Southern blot dosage analysis of 32 markers unique to human chromosome 21. Combining this information with detailed clinical evaluations of these patients, we have now constructed a "phenotypic map" that includes 25 features and assigns regions of 2-20 megabases as likely to contain the genes responsible. This study provides evidence for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation. This strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the DS phenotypic features.
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PMID:Down syndrome phenotypes: the consequences of chromosomal imbalance. 819 71

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.
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PMID:Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p. 873 48


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