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)

In seven infants with DiGeorge syndrome the major clinical manifestation was cardiac failure in the 1st week of life. All had severe congenital heart disease: five had interruption of the aortic arch and associated lesions, one had a ventricular septal defect and a cervical aorta, and one had truncus arteriosus. All but one died by 2 weeks of age. Necropsy data lent support to the hypothesis of a relation between the cardiovascular anomalies and defective development of structures derived from the third and fourth pharyngeal pouches.
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PMID:DiGeorge syndrome presenting as severe congenital heart disease in the newborn. 60 63

A newborn with multiple malformations, recurrent infections and hypocalcemic tetany is presented. The malformations included: Facial asymmetry, micrognathia, epicantus, low set nose, peculiar ears, club-feet and heart disease. The immunologic work-up disclosed a cellular immunodeficiency, but normal humoral immunity, and a diagnosis of "incomplete DiGeorge syndrome" was made. No thymus, nor parathyroid glands were found at autopsy. The disagreement between the analytical data and the pathological findings of "complete DiGeorge syndrome" are discussed. The existence of vestigial ectopic thymus not found in the dissected organs is considered the most likely hypothesis. Finally some considerations are made about a possible role of the rubeola virus on its etiology and the actual therapeutic possibilities.
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PMID:[Incomplete Digeorge syndrome (author's transl)]. 98 6

We report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X,-Y,-22,+der-(Y)t(Y;22) (p11.3q11.2) chromosome abnormality with del(22)(q11.2). Parental chromosomes were normal. Autopsy showed persistent truncus arteriosus type II and thymic aplasia consistent with DiGeorge anomaly. This report adds to the existing literature demonstrating an association between DiGeorge anomaly and monosomy 22q11.
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PMID:Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). 189 74

Cells from a particular portion of the cranial neural crest (cardiac neural crest) migrate from the neural fold into pharyngeal arches 3, 4 and 6, where they provide the support for the endothelium of the aortic arch arteries, and by migration into the outflow tract become involved in septation of the truncus arteriosus. Ablation of the premigratory cardiac neural crest results in persistent truncus arteriosus and other defects reminiscent of the DiGeorge syndrome in man. Removal of a small area of the cardiac neural crest causes a spectrum of heart defects classified together as dextraposed aorta including changes like that of Fallot's tetralogy in man. Some inflow tract anomalies have also been found. Pilot studies injecting phenylalanine into developing chick embryos at a very early stage had little effect on embryo viability or on the incidence of congenital heart defects. However, sham-treated animals produced predominantly small simple ventricular septal defects but phenylalanine-treated embryos had more serious and complex heart anomalies. It is not possible to say yet that congenital heart disease in the offspring of mothers with untreated phenylketonuria is due to phenylalanine-induced damage to the neural crest, but the pilot studies in chick suggest that this idea is worth pursuing.
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PMID:The effects of high phenylalanine concentration on chick embryonic development. 212 26

Short trachea, typically due to reduced tracheal cartilage ring number, produces high tracheal bifurcation which can be demonstrated in radiographs with evaluable air bronchograms. Accidental bronchial intubation with sequelae has been reported in short trachea patients who have tracheal intubation. Short trachea is associated with a number of syndromes, including DiGeorge anomaly and several types of congenital heart disease and skeletal dysplasias. Review of chest radiographs of 87 patients with myelomeningocele revealed that 31 (36%) had short tracheas. Two patients had a total of 3 episodes of bronchial intubation. This degree of association of short trachea with myelomeningocele, the frequency of myelomeningocele, and the number of surgical procedures performed on many such patients suggest that special attention to the short trachea is warranted in myelomeningocele patients because of the risk of accidental bronchial intubation and subsequent sequelae. Twelve (14%) of the myelomeningocele patients lacked radiographic evidence of the presence of twelfth ribs and 11 (13%) had hypoplasia of the twelfth ribs.
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PMID:Incidence of short trachea in patients with myelomeningocele. 205 58

Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth and mental development, genitalia hypoplasia, and ear anomalies) association (55% of 67 previously described patients and 100% of 16 new patients). Of those with congenital heart disease, 42% had conotruncal anomalies (tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus), and 36% had aortic arch anomalies (vascular ring, aberrant subclavian artery, interrupted aortic arch). This striking pattern of cardiovascular malformations is similar to that found in the DiGeorge sequence.
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PMID:The pattern of cardiovascular malformation in the CHARGE association. 244 95

The purpose of our study was to determine the incidence and type of malformations associated with tetralogy of Fallot (TF). Among 133 patients followed up for 12 years, 30 who had either complete TF (n = 26) or pulmonary atresia and interventricular septal defect (n = 4) presented with another, extracardiac malformation. These malformations were part of a malformative syndrome in 21/30 patients, including 4 trisomies 21, 6 embryofoetopathies unquestionably (antiepileptics n = 2, alcohol n = 1) or possibly (hormonal treatment n = 1) of environmental origin, 6 branchial arch pathologies and 5 miscellaneous syndromes. The extracardiac malformation was isolated in the remaining 9 patients, including 5 cases of skeletal anomaly and one case each of omphalocele and microcephaly. Altogether, in these 30 patients skeletal and neurosensory anomalies were largely predominant. Skeletal anomalies involved the vertebral column in 8 cases (cervical 3, thoracic 4, lumbar 1) and the limbs in 5 cases (2 of which were phocomelias). The 4 patients with pulmonary atresia and interventricular septal defect also presented with an early embryopathy: Shprinzen's velocardiofacial syndrome (n = 2), DiGeorge syndrome (n = 1) and situs inversus (n = 1). We compared TF with other congenital heart diseases in our population and found that the incidence of associated malformations was about average. The various associations are discussed. In genetic syndromes, trisomy 21 predominates and TF is less frequent than atrioventricular canal. In syndromes of environmental origin, the role of antiepileptic drugs (chiefly phenytoin and trimethadione) is well-known, alcohol is less often responsible and the TF-phocomelia association is suggestive of progesterone. In branchial arch syndromes, TF is the usual cardiopathy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Extracardiac malformations in tetralogy of Fallot]. 252 70

A girl with severe neonatal hypocalcaemia, thymic hypoplasia, congenital heart disease and mental retardation in combination with a partial monosomy of chromosome 22, del(22)(pter-q11.3), is reported. Nine other patients with an association between partial monosomy 22 and a DiGeorge syndrome have been reported earlier, and this combination probably constitutes a deletion syndrome similar to the Prader-Willi and the aniridia-Wilms' tumour syndromes. However, the deletion of chromosome 22 is mostly due to a translocation, with trisomy for another chromosomal segment. Such a mechanism may explain the different clinical features seen in patients with partial monosomy 22. In the present case there was an unbalanced translocation with a probable trisomy of the short arm of chromosome 20 combined with the partial monosomy 22. Cytogenetic investigation with high resolution banding techniques is indicated in patients with thymic aplasia and suspected DiGeorge syndrome.
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PMID:DiGeorge syndrome in a child with partial monosomy of chromosome 22. 271 36

Premortem diagnosis of the DiGeorge syndrome and its partial variants relies on the demonstration of a primary defect in cell-mediated immunity, generally in the setting of an infant with congenital heart disease, hypocalcemia, absence of a thymic shadow, and typical dysmorphic features. Although T-cell enumeration is considered a vital part of the diagnostic evaluation, no studies to date have addressed the issue of appropriate reference data in infants with congenital heart disease. We therefore undertook a prospective descriptive study of lymphocyte phenotype analysis in 27 nontransfused infants undergoing diagnostic cardiac catheterization. Striking differences were seen between patients and adult controls in means percentages and numbers of most lymphocyte subsets analyzed. Few differences were found in comparing the patient data to values for age-matched control infants without heart disease. The data are discussed with reference to published values for patients with partial DiGeorge syndrome. It is concluded that lymphocyte phenotype analysis in the diagnostic evaluation of patients with suspected DiGeorge syndrome must utilize appropriate reference values.
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PMID:Flow cytometric analysis of lymphocyte subpopulations in infants with congenital heart disease. 271 70

Short trachea results from reduction in number of tracheal cartilage rings to 15 or fewer from normal mean of 17 rings in infants. In a review of radiologic and pathologic data, the thoracic vertebral level of tracheal bifurcation as seen in anteroposterior chest radiographs of infants with congenital malformations, cardiovascular anomalies, and skeletal dysplasias, was compared with numbers of tracheal cartilage rings demonstrated in postmortem specimens. Increased frequency of short trachea was seen in patients with DiGeorge anomaly (77%), skeletal dysplasias (55%), brevicollis (57%), diaplacental rubella (40%), and patients with congenital heart disease who did not have DiGeorge anomaly (36%, with range 25-83% for different types, the highest, 83%, being interrupted aortic arch). Preintubation high kilovoltage chest radiographs to establish the level of tracheal bifurcation in patients with increased risk of short trachea can be helpful in avoiding bronchial intubation and its complications. Postintubation chest films to assure the level of the endotracheal tube tip should be considered for such patients. Growth in length of the trachea with age is accomplished both by increase in size of tracheal cartilage rings and interring membranes, and by increase in ring number.
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PMID:Short trachea, a hazard in tracheal intubation of neonates and infants: syndromal associations. 277 63


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