Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two maternal cousins affected by the X-linked form of Ehlers-Danlos syndrome have been observed. Both had congenital heart disease, "floppy valve syndrome", hernias, short stature, stretchable skin and moderate joint hypermobility. Both excreted normal amounts of urinary glycosaminoglycans, almost entirely represented by dermatan sulfate, whose degradation appeared to be inadequate. They also excreted large amounts of hydroxylysine glycosides and L-valyl-proline, considered to be products of degradation of collagen and elastin, respectively. Cultured skin fibroblasts of the propositus synthesized excessively soluble collagen and had a low lysyl oxidase activity. These findings suggest that the increased degradation of structural proteins may be secondary to the defective cross-linking processes caused by the enzymic defect. Addition of (+) catechin, a flavonoid, to the propositus's cultured fibroblasts decreased the abnormal solubility of their collagen.
 ...
PMID:Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. 24 Jun 45

Three children with cyanotic congenital heart disease who developed transient proteinuria and edema are described. One died of an intercurrent illness but the other two are now well. Renal biopsy findings in all three children demonstrated a mesangial proliferative glomerulonephritis on light microscopy. An unusual ultrastructural appearance of localized electron-dense thickening of the basement membrane of the capillary loops was seen in all three and collagen fibers were present in the mesangium of two. There was slight fusion of foot processes in two specimens and marked fusion in the third. Immunofluorescence in two patients demonstrated IgM staining in both and fibrin in one. The cause of the glomerular lesions is unknown but, among the many possible factors involved, anoxia and increased venous pressure may be important.
 ...
PMID:Nephropathy in cyanotic congenital heart disease. 31 49

The authors report their experience with three endomyocardial biopsies in cases of endomyocardial fibrosis; two of them were successful. The light and electron microscopical changes found were of two types: one showed the classical appearances of pure fibrosis, which was acellular and associated with degenerative changes in the heart muscle cell; the other type consisted of young fibrous tissue with numerous fibroblasts secreting a copious fibrillary substance which may have been the precursor of collagen fibres. Endomyocardial biopsy is, in experienced hand, a useful means of diagnosis in the field of tropical heart disease: it can be helpful in diagnosis, provided that the biopsy site is carefully controlled by anteriography and cathereisation; additionally, the opportunity to study the histological and electron microscopical changes which this technique affords should lead to a better understanding of the pathogenesis of those tropical cardiac disorders whose aetiology is yet to be established.
 ...
PMID:[Endomyocardial biopsy: its value in tropical pathology. Apropos of 3 new cases]. 40 94

Straited membranous structures (SMS), which consisted of sheets or ribbons of 130 to 220 A in thickness, showed variable patterns of periodic substructure, and resembled SMS described in renal and ocular tissues in various diseases, were found in extracellular locations in a) mitral valve (2 patients) and tricuspid valve (1 patient) of 2 patients with mitral valvular prolapse, b) mitral valve and femoral artery of 1 patient with Marfan's syndrome and prolapsed mitral valve, and c) myocardium (2 patients) and thickened endocardium (3 patients) of 3 patients with congenital heart disease associated with muscular obstruction to right ventricular outflow. Striated membranous structures measured up to several microns in diameter, often were highly folded and convoluted, and sometimes appeared circular in outline. Some SMS measured from 130 to 150 A in thickness and had indistinct edges and poorly defined periodicity. The majority of SMS, however, had greater thicknesses, in the range of 200 A, and a periodicity characterized by alternating light and dark bands with a spacing that varied from 100 to 160 A. The structures were associated with thickened basement membranes, elastic fibers, and membrane-bound bodies of the type thought to be involved in elastogenesis. Evidence available suggests that SMS results from an unusual pattern of arrangement of a component, possibly Type IV collagen, of basement membrane material.
 ...
PMID:Striated membranous structures in human hearts. An ultrastructural study. 97 Apr 44

Some morphological, biochemical and functional parameters of platelet population in children with cyanotic congenital heart disease (CCHD) were studied by making comparisons of the normal platelet population in both CCHD patients and controls. The mean volume of the platelets from cyanotic patients was greater than from normals. The platelet size distribution curves demonstrated a shift towards larger than normal size in the case of CCHD. The mean protein content, as well as the mean PF3 content of platelets was increased in CCHD. Following addition of kaolin, PF3 release was more rapid and of shorter duration with platelets from CCHD patients as compared to normal platelets. They also released more PF3 than did normal platelets. After addition of ADP, collagen, or adrenalin, platelets of CCHD patients were more responsive than similarly treated platelets from normals. Platelets from CCHD showed an increased initial rate of aggregation and greater maximum aggregation. These data suggested that the platelet population of CCHD patients consists of larger, younger and functionally more active platelets than does the platelet population of normals.
 ...
PMID:The young platelet population in children with cyanotic congenital heart disease. 98 34

Recently disorders of sinus node function have found increasing interest in clinical medicine thanks to new diagnostic and therapeutic developments. This paper represents a comprehensive review of these conditions, combined under the name "Sick Sinus Syndrome" (SSS). Besides a detailed analysis of 63 cases seen at our institution, the results of other groups are compared and extensively discussed. The clinical picture of the SSS is characterized by a wide variety of bradycardiac and tachycardic atrial arrhythmias, occurring separately or in combination. These can be classified in three subgroups: Patients with exclusive sinus bradycardia; patients with sinoatrial exit block or transient episodes of sinus arrest with or without AV escape rhythms; and finally patients with the bradycardia/tachycardia-syndrome, which are complicated by additional atrial tachyarrhythmias. The symptomatology of the SSS is multiform and extends from symptomless cases and those with only general signs of reduced cardiac function to patients with recurrent severe syncopal attacks which may lead to cerebral damage and even death. Besides the typical history, the diagnosis of the SSS primarily rests upon the ECG, especially the long term ECG recorded continuously on a 24 hrs. tape (Holter technique). Also the exercise ECG is of some value, characteristically showing an inadequate increase in the sinus rate, sometimes with AV escape systoles and -rhythms. In addition various provocative tests have been devised which are of help to differentiate between a pathologic and a normal sinus node function. Among these the determination of the sinus node recovery time following overdrive atrial pacing has gained wide acceptance. In most cases the exact etiology of the SSS is not known. In addition to coronary and inflammatory heart diseases a primarily degenerative lesion of the sinus node, comparable to cases with "primary heart block" are discussed. There is also a remarkably frequent past history diththeria. Rarer causes of the condition represent cases with cardiomyopathy, thyreotoxic heart disease, collagen and other disorders and also a familial manifestation of the SSS has been described. Therapeutically, pharmacologic treatment with vagolytic, beta-adrenergic or the common antiarrhythmic drugs is often unsuccessful, especially in the treatment of the Brady-Tachy-Syndrome. Digitalis glycosides, however, are frequently of some value, as they represent an effective prophylactic agent against atrial tachyarrhythmias without prolonging the sinus node recovery time or reducing significantly the sinus rate. While a few patients do not require any treatment, an artificial cardiac pacemaker has to be inserted in most cases. Atrial stimulation may be superior to ventricular on-demand pacing in some patients, and also a special system for the treatment of the SSS combined with significant AV block (binodal disease) has been designed, the bifocal sequential pacemaker.
 ...
PMID:[Sinus node syndrome]. 109 30

An ultrastructural and histochemical study of the subendocardial lesion in carcinoid heart disease showed six different cell types within a myxoid matrix. The matrix, composed of a mucopolysaccharidic ground substance, collagen, and reticluin fibers, contained stem cells, four types of fusiform cells (fibrocytes, fibroblasts, myofibroblasts, and smooth muscle cells), and intermediary cell type. Our observations suggest that the humoral mediators of the carcinoid syndrome may induce the differentiation of a subendocardial stem cell into contractile elements.
 ...
PMID:Light and electron microscopic study of cellular proliferation in carcinoid heart disease. 120 7

Pulmonary capillaries have extremely thin walls to allow rapid exchange of respiratory gases across them. Recently it has been shown that the wall stresses become very large when the capillary pressure is raised, and in anaesthetised rabbits, ultrastructural damage to the walls is seen at pressures of 40 mm Hg and above. The changes include breaks in the capillary endothelial layer, alveolar epithelial layer, and sometimes all layers of the wall. The strength of the thin part of the capillary wall can be attributed to the type IV collagen in the extracellular matrix. Stress failure of pulmonary capillaries results in a high-permeability form of oedema, or even frank haemorrhage, and is apparently the mechanism of neurogenic pulmonary oedema and high-altitude pulmonary oedema. It also explains the exercise-induced pulmonary haemorrhage that occurs in all racehorses. Several features of mitral stenosis are consistent with stress failure. Overinflation of the lung also leads to stress failure, a common cause of increased capillary permeability in the intensive care environment. Stress failure also occurs if the type IV collagen of the capillary wall is weakened by autoantibodies as in Goodpasture's syndrome. Neutrophil elastase degrades type IV collagen and this may be the starting point of the breakdown of alveolar walls that is characteristic of emphysema. Stress failure of pulmonary capillaries is a hitherto overlooked and potentially important factor in lung and heart disease.
 ...
PMID:Stress failure of pulmonary capillaries: role in lung and heart disease. 809 42

The ultrastructural characteristics of collagen and the localization of collagen types were studied in formalin-fixed autopsied human hearts from patients who died in an advanced stage of dilated cardiomyopathy (DCM). The three-dimensional architecture of collagen fibers was studied by scanning electron microscopy by using the cell-maceration method. The localization of collagen type I-VI was demonstrated immunohistochemically using monoclonal antibodies specific to each collagen following the treatment of specimens with trypsin. In the hearts obtained from control subjects without heart disease, there were no significant differences in the ultrastructure and localization of collagens between the fresh and the formalin-fixed hearts. Therefore, formalin-fixation did not affect the ultrastructure of collagen or the immunoreactivity. In DCM, a dense endomysial weave network consisting of fine fibrils was associated predominantly with collagen type I and III, associated moderately with type VI collagen, but less associated with type IV collagen. Perimysial collagen bundles and collagen strands increased both in number and thickness. The outstanding finding was the presence of giant coiled perimysial fibers measuring about 20-30 microns in diameter. The prominent increase in perimysial fibrosis was closely associated with the accumulation of both type I and type III collagen, and associated moderately with type VI collagen. Interestingly, type V collagen increased in the intracellular matrix of the myocardium in DCM. Type II collagen was not present in either normal or diseased hearts. These structural and immunohistochemical characteristics of collagen may provide insights important to assessing the pathogenesis of the cardiac lesion of DCM.
 ...
PMID:Collagen in dilated cardiomyopathy--scanning electron microscopic and immunohistochemical observations. 140 45

Intakes of alcohol and saturated fatty acids were determined through a dietary questionnaire from 1600 men (aged 49-66 y) in the Caerphilly Prospective Heart Disease Study. Platelet aggregation induced by thrombin adenosine disphosphate (ADP), and collagen was studied in subjects who had fasted and had not recently taken drugs affecting platelets. In subjects who drank alcohol, the odds ratio of a high response to aggregation was significantly reduced (primary ADP, P less than 0.05; secondary ADP, P less than 0.001; collagen, P less than 0.02). The significance was enhanced by adjusting for smoking and by including only the subjects with a high intake of saturated fatty acids or a low intake of polyunsaturated fatty acids. By contrast, the responsiveness to thrombin was slightly increased at all levels of alcohol consumption. We therefore suggest that part of the effects of alcohol on coronary heart disease may be mediated by a dose-dependent effect on certain platelet functions, modulated by the intake of dietary fat.
 ...
PMID:Alcohol and platelet aggregation: the Caerphilly Prospective Heart Disease Study. 157 Jul 95


1 2 3 4 5 6 7 8 9 10 Next >>