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)

Noonan's syndrome is characterised by a dysmorphic facies, congenital heart disease, and short stature, and is inherited as an autosomal dominant trait. Because abnormal bleeding has also been reported, we investigated a group of patients for coagulation-factor deficits. Of the 72 individuals studied (37 male, 35 female, mean age 11.4 years), 47 (65%) had a history of abnormal bruising or bleeding. 29 patients (40%) had a prolonged activated partial thromboplastin time. Specific abnormalities in the intrinsic pathway of coagulation (partial factor XI:C, XII:C, and VIII:C deficiencies) were found in 36 patients (50%). Multiple abnormalities among these 36 patients included combined factor XI:C and XII:C deficiencies (4 patients) and factor XI:C and VIII:C deficiencies (4), and 1 patient had combined factor VIII:C, XI:C, and XII:C deficiency. There was poor correlation between a history of abnormal bleeding and coagulation-factor deficit. In five families, similar coagulation-factor deficiencies were present in first-degree relatives with the syndrome. The pattern of inherited bleeding abnormalities seen in Noonan's syndrome suggests autosomal regulation of the intrinsic coagulation pathway.
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PMID:Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. 134 91

The role of endothelial cells in inflammatory heart disease and rejection after heart transplantation is only partly understood. To determine whether an immune reaction against endothelial cells occurs we examined endomyocardial biopsies from patients with myocarditis (n = 13), dilated cardiomyopathy (n = 23), no clinical rejection (n = 10) and moderate to severe rejection after heart transplantation (n = 10). These were compared to 'normal' donor hearts with monoclonal endothelial-specific antibodies EN4, Pal-E and F VIII-related antigen. Nearly all endothelial cells were stained positively with EN4. There were no significant changes in the binding of the antibodies except in rejection when Pal-E and F VIII-related antigen were significantly increased. It is concluded that apart from their possible role as antigen-presenting cells, endothelial cells are important targets in rejection after heart transplantation. Damage or cytolysis of endothelial cells may cause both altered transendothelial permeability and functional decrease in antigen presentation.
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PMID:Immune response to the endothelium in myocarditis, dilated cardiomyopathy and rejection after heart transplantation. 191 45

We report our experience of myocardial scintigraphy with 201thallium (201Tl) in 52 children, aged 4 days to 18 years, in which 80 studies were made primarily to demonstrate or exclude impaired myocardial perfusion. For analysis, the patients were divided into the following eight groups: group I, coronary artery malformations (five patients); group II, Kawasaki's syndrome (six patients); group III, arterial switch operation (seven patients); group IV, dilated cardiomyopathy (18 patients); group V, hypertrophic cardiomyopathy (four patients); group VI, myocardial dysfunction after surgery for congenital heart disease (five patients); group VII, pulmonary atresia (three patients); and group VIII, miscellaneous (four patients). Myocardial scintigraphy was performed with a planar or tomographic technique at rest or after exercise (four patients). Isotope-uptake defects, indicating impaired myocardial perfusion, were present in 14 patients, including small infants. Defects were seen in all groups except those with hypertrophic cardiomyopathy and pulmonary atresia. The absence of such defects in several of the patients with Kawasaki's syndrome was particularly valuable as it made coronary angiography unnecessary. In the other groups of patients myocardial scintigraphy was a valuable adjunct to other investigations.
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PMID:Myocardial scintigraphy with 201thallium in pediatric cardiology: a review of 52 cases. 230 77

Coagulation abnormalities with and without haemorrhagic manifestations have been frequently reported in newborn-infants affected by hypoxia. Particularly in postmature-infants and in those ones with acute asphyxia at birth, respiratory distress syndrome (RDS), intra-uterine growth retardation (IUGR) and cyanotic congenital heart disease (CCHD). A reduction of synthesis or a consumption of blood coagulation factors are the main causes of these abnormalities. The anomalies of platelet number and of their function, of haemostasis global tests, of coagulation factors and physiologic inhibitors levels, of fibrinogenesis and fibrinolysis are examined, including authors' studies and a review of literature too. The authors think platelet count, PT, PTT, fibrinogen, factor V and VIII, and PDF determinations are necessary laboratory investigations for newborn-infants with RDS or acute asphyxia for about the first week of life, because of the risk of consumption coagulopathy. In the other hypoxic newborns (IUGR, CCHD, postmature infants) platelets count, PT, PTT and serum PDF determinations could be enough in order to value any coagulation abnormalities presence.
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PMID:[Neonatal hypoxia and hemocoagulative changes]. 269 28

We identified a consecutive series of 12 children with noncyanotic congenital cardiac lesions with loss of the largest plasma von Willebrand factor (vWF) multimers determined by SDS-agarose electrophoresis. Seven had previous histories of mucocutaneous hemorrhage; ten had a prolonged bleeding time. Analysis of the factor VIII molecular complex revealed that six patients had reduced vWF measured both immunologically (vW:Ag) and by ristocetin cofactor assay (vW:rist). All had normal or borderline normal factor VIII procoagulant (F VIII) concentrations. Three children had prolonged partial thromboplastin times due to concurrent factor XII deficiency; none had laboratory evidence of intravascular coagulation. Five of the children were restudied after surgical correction of their cardiac lesions. Four had normalization of vWF multimers; the fifth, whose vWF was abnormal postoperatively, had a residual pressure gradient across a previous pulmonary artery banding site. Multimeric abnormalities were not found in the parents of three patients. Thus some patients with noncyanotic congenital heart disease may have an acquired abnormality of vWF that is normalized with correction of the abnormal hemodynamic state.
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PMID:Loss of the largest von Willebrand factor multimers from the plasma of patients with congenital cardiac defects. 348 79

Alteration of coagulation status and certain clinical chemistry laboratory determinations of 75 adult patients undergoing cardiopulmonary bypass procedures for acquired heart disease was studied during and after surgery. None of the patients was given transfusions of blood or blood components. With hemodilution, the mean hematocrit value dropped from 38% to 28% during the procedure. Fibrin degradation products and euglobulin lysis time were transiently abnormal. Factor V diminished somewhat during the procedure, whereas factors VIII and IX increased after surgery. Clottable fibrinogen values decreased slightly, but increased to an abnormally high value at 24 and 48 hours. Mean value of platelet counts decreased from 194,000 to 144,000/microliter immediately after surgery. Knowledge of expected deviation of coagulation factors and certain clinical chemistry tests following open heart surgery is helpful in evaluating the status of the postoperative patient.
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PMID:Alteration of coagulation and selected clinical chemistry parameters in patients undergoing open heart surgery without transfusions. 727 Apr 96

This study was undertaken to screen children with congenital heart disease for coagulation abnormalities and to compare the groups of cyanotic and acyanotic children with congenital heart disease with respect to abnormalities of the coagulation system. Following investigations were done in all the patients: complete blood count, erythrocyte sedimentation rate, peripheral smear examination, bleeding time, prothrombin time, activated partial thromboplastin time, assay of fibrinogen, D-dimer, factors VII and VIII and antithrombin III. Red cell indices were determined in 12 control, 12 acyanotic and 20 cyanotic children. Twenty-five patients each, with echocardiographically proven cyanotic and acyanotic congenital heart disease under 12 years of age constituted the study group; as many children of the same age group were included as the control group. The results showed isolated abnormalities of laboratory tests with equal frequency (28%) in acyanotic and cyanotic groups but coexisting abnormalities of more than one test were seen in significantly larger number of cyanotic children (5/25 and 16/25, respectively). A significant association was noted between thrombocytopenia and a high haematocrit in cyanotic patients. It is concluded that laboratory abnormalities of tests of haemostasis are more common in cyanotic congenital heart disease patients. The patterns of laboratory abnormalities suggest a chronic compensated disseminated intravascular coagulation at a subclinical level, reduced synthesis of clotting factors and/or deranged platelet aggregation in different subgroups of patients.
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PMID:Haemostatic changes in children with cyanotic and acyanotic congenital heart disease. 1125 79

We report three unrelated patients with congenital facial nerve palsy and chromosome 22q11 deletion, a condition hitherto poorly recognized. In the first case, facial palsy was associated with aortic coarctation, ductus arteriosus, and ostium secundum atrial septal defect. In the second case, facial palsy was associated with ostium secundum atrial septal defect, obstruction of the ureteropelvic junction, double ureteropelvic-calicial system, and distal metaphyseal widening of the forearm and leg bones. In both cases, facial palsy was the presenting feature. In the third case, an ostium secundum atrial septal defect was also present, but involvement of cranial nerves III, VI, and VIII, in addition to hypoplastic structures of cerebellar and cerebral peduncles, were the predominant features. There were no inherited deletions within chromosome band 22q11 and the de novo deletions detected in each case belonged to the paternally derived chromosome 22. Association of facial nerve palsy and congenital heart disease versus cardiofacial syndrome are different only on clinical grounds, so both conditions can be genetically identical and form part of the spectrum of defects associated with chromosome 22q11 deletions. We recommend investigation for chromosome 22q11 deletions in patients with complete nerve facial palsy.
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PMID:Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion. 1141 15