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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.
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PMID:Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. 24 Jun 45

Failure to achieve adequate pulmonary artery growth in patients with cyanotic congenital heart disease is a major obstacle to surgical correction. To assess whether differences in structural composition of central pulmonary arteries influence their growth potential after surgically created shunts, we obtained full-thickness biopsy specimens from the hilar pulmonary arteries of eight patients with pulmonary atresia or tetralogy of Fallot undergoing modified Blalock-Taussig shunts under 1 year of age. Tissue was processed for electron microscopic studies and a morphometric assessment was made of the volume proportions of smooth muscle, collagen, ground substance, and elastin. Initial pulmonary artery size was determined angiographically during the diagnostic cardiac catheterization. Pulmonary artery size was determined by cross-sectional echocardiograms 7 to 27 months later (mean 19 months). Pulmonary artery growth did not correlate with the interval between examinations but did correlate with the volume proportion of elastin (r = 0.73, standard error of the estimate = 1.45, p less than 0.05). Thus the structural composition of pulmonary arteries may influence their potential for growth after surgical shunts. In particular, an inadequate proportion of elastin may be a hindrance to growth.
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PMID:Structural composition of central pulmonary arteries. Growth potential after surgical shunts. 365 52

Lung tissue from subjects dying from primary plexogenic pulmonary hypertension (PPH) has shown defects of elastin formation of the lung arteries. Lung vessels from 5 cases of PPH were compared with those of 9 age-matched normal subjects, and 24 individuals having secondary pulmonary hypertension (2 degrees PH). PPH cases and those with 2 degrees PH due to congenital heart disease with left-to-right shunts (2 degrees PH, LRS), showed active proliferation of medial smooth muscle cells (SMC) through defects of the internal elastic lamina (IEL) into the arterial lumen to form typical plexiform lesions. Larger arteries showed accelerated intimal thickening similar to normal aging. Plexiform lesions were not seen in normal subjects or in those developing high pulmonary pressures later in life. The observations showed that the development of discontinuities of the IEL of the pulmonary arteries and intimal thickening is accelerated in normal subjects by high pulmonary artery pressure, especially when this is established at a very young age. They suggest that such discontinuities occur in PPH due to inherent abnormality of the elastin of the arterial walls, with advanced early proliferation of medial SMC and obstruction of the pulmonary arterial circulation.
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PMID:Primary plexogenic pulmonary hypertension shows imperfect formation of the internal elastic lamina of the pulmonary arteries. 762 75

The existence of coronary endoarterial cushions (CEC) in the human heart as nonpathological, functional entities has been debated, and CEC have been sparsely reported in animals. Arterial cushions are localized thickenings that protrude into the lumen of specific arteries. We have identified CEC in the rhesus monkey, dog, sheep, goat, pig, rabbit and rat, and in the human heart. Two distinct types are described: the ovoid CEC arranged singly, in pairs, or in groups of three to four, and the less common polypoid CEC seen primarily in humans. The highest incidence of CEC in rabbits and humans was in the left ventricle in arteries 150-488 microns in diameter. Light and electron microscopy demonstrated intimal location with smooth muscle cells surrounded by ground substance, collagen and elastin fibers in a highly organized pattern. Nerve fibers identified by their immunoreactivity with antiserum to the vasodilatory calcitonin-gene-related peptide contacted the CEC along the tunica media and were occasionally seen within CEC. Arrangement and histological composition of CEC suggest a role in the regulation of local blood flow and myocardial perfusion. In human hearts, the CEC density index correlated highly with the degree of heart disease. In subjects with high heart disease rating, increased connective tissue, lipid-like infiltration and calcification was seen within CEC, and foam cells were present in CEC of obese rabbits. This suggests that CEC in coronary arteries could be predisposed sites of atherosclerosis, and that injured CEC can cause coronary artery spasm and ischemia. We conclude that CEC occur in animals and humans as innervated intimal smooth muscle cushions that might have a role in myocardial perfusion and heart disease.
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PMID:Intramyocardial arterial cushions of coronary vessels in animals and humans: morphology, occurrence and relation to heart disease. 892 19

Chronic complications of diabetes are dominated by disorders of the vascular system. They are a much larger burden on both diabetic patients and overall medical costs than diabetes itself. Large vessel problems are far more frequent than microvascular disorders. Loss of arterial elasticity alters arterial flow patterns and increases microcirculatory peak flow rates. Hyperglycemia may directly disrupt elastin formation. Diabetic leg artery disease may be generated by nerve damage, reversing this interactive contribution sequence. The major anatomic feature of microangiopathy in long-term diabetes is an unevenly distributed thickening of the intima of smaller arterioles. The thickening is primarily due to accumulation of type IV (basement membrane) collagen. Arterioles change local vessel diameter to adjust blood distribution to meet current needs. The thickening compromises the maximum local blood flow that may be achieved by this means. Compromise of maximal arteriolar dilatation does not disrupt exercising muscle but in the kidney, retina, and possibly in nerve, local circumstances can generate serious damage. Each of these system's responses has unique features that mediate its vulnerability, but all these organs show arteriolar hyalinization. The increased arteriolar accumulation of type IV collagen appears to be a response to the tangential force generated by flow over local endothelial cells. An increase in peak arteriolar wall force is mediated by a diabetes-specific doubling of erythrocyte membrane curvature change resistance. Red cell aggregation rate determines the rate of damage. The same nonspecific burden may also predispose to heart disease and stroke. Intensive metabolic control improves red cell deformability and protects against arteriolar damage. Therapies that address the rheologic problem more directly may add to the effectiveness of good diabetes control in the future.
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PMID:Development of vascular complications in diabetes. 954 55

Heart disease remains the most frequent cause of death in the general population and is intimately related to aging. Either extreme premature aging or marked longevity may be monogenic, but in most humans aging is a complex polygenic phenomenon. Hypercholesterolemia and hypertension are important factors. Cardiac amyloidosis and vascular elastin degradation may be separate factors. Humans with the greatest longevity are relatively refractory to atherosclerosis. Frequencies of heart deaths among relatives of a heart-death proband without dyslipoproteinemia conform to expectations of a polygenic trait. Careful, attentive medical management of major environmental factors and of heart senescence can result in more successful aging.
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PMID:Genetics, aging, and the heart. 977 Sep 46

We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
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PMID:[Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases]. 985 28

The purpose of a neuroanatomical analysis of Williams Syndrome (WMS) brains is to help bridge the knowledge of the genetics of this disorder with the knowledge on behavior. Here, we outline findings of cortical neuroanatomy at multiple levels. We describe the gross anatomy with respect to brain shape, cortical folding, and asymmetry. This, as with most neuroanatomical information available in the literature on anatomical-functional correlations, links up best to the behavioral profile. Then, we describe the cytoarchitectonic appearance of the cortex. Further, we report on some histometric results. Finally, we present findings of immunocytochemistry that attempt to link up to the genomic deletion. The gross anatomical findings consist mainly of a small brain that shows curtailment in the posterior-parietal and occipital regions. There is also subtle dysmorphism of cortical folding. A consistent finding is a short central sulcus that does not become opercularized in the interhemispheric fissure, bringing attention to a possible developmental anomaly affecting the dorsal half of the hemispheres. There is also lack of asymmetry in the planum temporale. The cortical cytoarchitecture is relatively normal, with all sampled areas showing features typical of the region from which they are taken. Measurements in area 17 show increased cell size and decreased cell-packing density, which address the issue of possible abnormal connectivity. Immunostaining shows absence of elastin but normal staining for Lim-1 kinase, both of which are products of genes that are part of the deletion. Finally, one serially sectioned brain shows a fair amount of acquired pathology of microvascular origin related most likely to underlying hypertension and heart disease.
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PMID:V. Multi-level analysis of cortical neuroanatomy in Williams syndrome. 1095 35

Among congenital defects the most common are the congenital heart defects, which constitute a heterogeneous group with a multifactor etiology. A single gene mutation has been identified in some of them, such as in of Williams's syndrome, or they can be due to teratogenic agents. The advance in diagnosis and treatment of congenital heart defects has become very important because mortality has diminished and patients live longer and better, reaching adult hood. Molecular biology offers now opportunities understand the cause of many genetic diseases thanks to molecular studies of chromosomes. Conotruncal malformations are known to be caused by a microdeletion in chromosome 22(22q11), this mutation is also responsible for the DiGeorge and cardiovelofacial syndromes, the most relevant aspects are: congenital heart disease, which is present in 75% of the cases, the leading disorder is Fallot's tetralogy with pulmonary atresia, in second place is interruption of the aortic arch type B, followed by common truncus arteriosus. These patients have other phenotypic features, such as high palate, speech problems, malimplantation of ears, and protuberant nose tip, among others. Diagnosis is made with the FISH (fluorescent in situ hybridization) test that shows a microdeletion in chromosome 22 at the 11.2 region. Another syndrome that has received great attention is the Williams-Beuren syndrome, which courses with mental retardation, hypercalcemia, characteristic facies, and supravalvular aortic and pulmonary stenosis. To day, it is known that its cause is a deletion in chromosome 7(7q11.23), which affects elastin region, in consequence, affecting the vessels.
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PMID:[Congenital cardiopathies and syndromes in adults]. 1200 67

Heart disease is directly associated with aging as well as progression of atherosclerosis. The vessels begin to stiffen with age. It is speculated that the increase in stiffness can occur as a result of either increase progression of atherosclerosis or possibly due to the deterioration of the elastic components of the arterial wall. Regardless of the mechanism, an increase in vessel stiffness can lead to significant increase in the pathophysiological progression of the disease. The overall objectives of this investigation were to evaluate the coronary artery obtained from cadavers in their 7th, 8th and 9th of life and characterized the level of atherosclerosis and to identify using special elastin staining techniques the involvement of fiber disruption in atherosclerosis. The coronary arteries were obtained from cadaveric donors at the University of Saskatoon (average age 81.7 years, range 77-92 years of age). The arteries were fixed, sectioned and stained for routine analysis as well as with an Elastin staining protocol. The arteries were screened and the level of atherosclerosis was measured as well as thickness changes within the arteries. Digital imaging was used to capture the areas of elastin disruption. The overall results suggest elastin disruption occurs as the atherosclerotic plaque progresses. The imaging system in conjunction with elastin staining allows for a very sensitive method to analyze the tissue for the progression of pathophysiological disease mechanisms.
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PMID:The use of digital imaging technology to assess the pathogenesis of coronary atherosclerosis: the role of elastin. 1272 31


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