Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0205700 (ash)
 15,125 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A) Definition and classification. Cardiomyopathy is defined as a dysfunction of cardiac muscle of unknown origin and classified according to genetic, morphological and functional criteria as follows: 1. cardiomyopathy of autosomal dominant inheritance with asymmetric septal hypertrophy (ASH) a) obstructive b) non obstructive 2. cardiomyopathy of autosomal dominant inheritance without ASH 3. cardiomyopathy of autosomal recessive inheritance 4. sporadic cardiomyopathy. It is assumed that at least the cardiomyopathies listed here are heterogeneous groups that have to be subdivided as soon as further discriminating findings--structural or enzymatic--are available. B) Diagnosis, prognosis, treatment. The diagnostic methods are evaluated, the prognosis and the treatment of the cardiomyopathies are reviewed.
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PMID:[Cardiomyopathies]. 2 78

Degenerated cardiac muscle cells were present in hypertrophied ventricular muscle obtained at operation from 12 (38%) of 32 patients with asymmetric septal hypertrophy (hypertrophic cardiomyopathy) or aortic valvular disease. Degenerated cells demonstrated a wide variety of ultrastructural alterations. Mildly altered cells were normal-sized or hypertrophied and showed focal changes, including preferential loss of thick (myosin) filaments, streaming and clumping of Z band material, and proliferation of the tubules of sarcoplasmic reticulum. Moderately and severely degenerated cells were normal-sized or atrophic and showed additional changes, including extensive myofibrillar lysis and loss of T tubules. The appearance of the most severely degenerated cells usually reflected the cytoplasmic organelle (sarcoplasmic reticulum, glycogen, or mitochondria) which underwent proliferation and filled the myofibril-free areas of these cells. Moderately and severely degenerated cells were present in areas of fibrosis, had thickened basement membranes, and had lost their intercellular connections. These observations suggest that degenerated cardiac muscle cells have poor contractile function and may be responsible for impaired cardiac performance in some patients with chronic ventricular hypertrophy.
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PMID:Ultrastructural features of degenerated cardiac muscle cells in patients with cardiac hypertrophy. 12 33

Light and electron microscopic observations were made on cardiac tissues removed at operation from 91 patients with ventricular hypertrophy, including left ventricular myocardium from 16 patients with aortic valvular disease and from 16 patients with asymmetric septal hypertrophy, and crista supraventricularis muscle from 59 patients with congenital heart diseases associated with right ventricular outflow tract obstruction. In all patients the majority of cardiac muscle cells were hypertrophied, had intact myofibrils, and were surrounded by small amounts of fibrous tissue. In 18 (20%) of the 91 patients cardiac muscle cells with a wide spectrum of degenerative changes were present in addition to hyperthrophied, nondegenerated cells. Early degenerative changes consisted of focal myofibrillar lysis, with preferential loss of thick myofilaments, and focal proliferation of tubules of sarcoplasmic reticulum. Cardiac muscle cells with advanced degeneration had extensive myofibrillar damage and a marked decrease in numbers of myofibrils and T-tubules. The most severely degenerated cells showed selective proliferation of organelles, including sarcoplasmic reticulum, mitochondria, and glycogen, which replaced the contractile elements in the cytoplasm. These findings suggest that degenerated cardiac muscle cells have poor contractile function and may be responsible for impaired cardiac performance in some patients with ventricular hypertrophy. These morphological features appear to represent a final common pathway for degeneration of cardiac muscle cells in a variety of cardiac conditions.
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PMID:The spectrum of degenerative changes in hypertrophied human cardiac muscle cells: an ultrastructural study. 12 39

To determine the relation between the sudden infant death syndrome (SIDS) and asymmetric septal hypertrophy (ASH), pathologic obervations weree made in 45 infants who died with SIDS. Ventricular septal to left ventricular free wall ratios were normal (less than 1.3) in 42 infants and increased in three others (ratios of 1.4, 1.4, and 1.6). However, in none of these three infants with abnormal septal-free wall ratios was the ventricular septum markedly thickened. Small foci of disorganized cardiac muscle cells, similar to those observed in patients with ASH (but less marked in severity), were present in the ventricular septum of 22 per cent of controls. Thus, we have found little pathologic evidence to suggest that SIDS and ASH are commonly associated, although a rare coexistence of these two conditions is possible.
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PMID:Sudden infant death syndrome (SIDS): cardiac pathologic observations in infants with SIDS. 14 May 99

Echocardiographic studies were performed in 42 sets of parents who had at least one infant with Sudden Infant Death Syndrome (SIDS). Asymmetric septal hypertrophy (ASH) was detected by echocardiography in one member of only 5 percent of the 42 sets of parents. Echocardiograms were also obtained in three other sets of parents who had infants with SIDS (selected because their infants showed small foci of disorganized cardiac muscle cells in the ventricular septum, similar to those present in patients with typical ASH but less marked in severity). ASH was present in one member of each of these three sets of parents. Ventricular septal-to-posterobasal left ventricular wall thickness ratios in the five subjects in this study with echocardiographically determined ASH ranged from 1.3 to 1.7, although only one individual showed marked thickening of the ventricular septum (22 mm). Thus, SIDS and ASH do not appear to be commonly associated conditions.
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PMID:Sudden infant death syndrome (SIDS). Echocardiographic studies in relatives of infants with SIDS. 41 Aug 34

Echocardiographic and necropsy studies were performed in 304 patients with various cardiac diseases. The overall prevalence of disproportionate ventricular septal thickening (septal to free wall ratio greater than or equal to 1.3) was 10%. However, it was related to the type of cardiac lesion. Prevalence was high (greater than 20%) in pulmonary stenosis or primary pulmonary hypertension, lower (less than 15%) in Eisenmenger syndrome or aortic or mitral valvular disease and was not present in atrial or ventricular septal defect. In right ventricular overload, prevalence of disproportionate septal thickening correlated with increasing ventricular systolic pressure. None of 16 patients with disproportionate septal thickening studied at necropsy showed marked disorientation of cardiac muscle cells in the ventricular septum, characteristic of genetically transmitted asymmetric septal hypertrophy (ASH). Furthermore, disproportionate septal thickening was demonstrated by echocardiography in only one of 59 first degree relatives of patients with disproportionate septal thickening and associated cardiac diseases. Thus, disproportionate ventricular septal thickening associated with other cardiac diseases usually is due to secondary hypertrophy and is not a manifestation of genetically transmitted ASH.
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PMID:Prevalence and characteristics of disproportionate ventricular septal thickening in patients with acquired or congenital heart diseases: echocardiographic and morphologic findings. 83 84

Inheritance plays an important role in the cardiomyopathies (i.e. dysfunction of the cardiac muscle of unknown origin). This especially has become obvious for the entity asymmetric septal hypertrophy of autosomal dominant inheritance (ASH), a cardiomyopaty with and without obstruction. But this is not the only type of cardiomyopathy of dominant transmittance as was shown by the demonstration of a kindred, in which echocardiographically no hypertrophy of the septum could be found. For it was not possible to find a uniformity for all the affected members of the kindred, for example a congestive course of the disease. Therefore it is suggested to name the disease without any prejudice "cardiomyopathy without asymmetric septal hypertrophy of dominant inheritance" to distinguish it from the "cardiomyopathy with asymetric septal hypertrophy of dominant inheritance". There also may occur a cardiomyopathy of autosomal recessive inheritance. This form could represent a large part of the "sporadic" cardiomyopathies and should challenge to search intensively for enzyme defects as a cause of the disease.
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PMID:[Importance of inheritance in cardiomyopathies (author's transl)]. 89 6

1. The effects of feeding with a purified magnesium-deficient diet (--Mg, 7-8 mg Mg/kg) on horse foal blood serum and tissue concentrations of Mg, calcium and phosphorus were studied, and the results compared with histopathological findings. 2. Serum concentrations of Ca and P were unaffected by feeding with the --Mg diet, whereas serum Mg concentrations decreased from a mean initial (day o) concentration of 0.78 mmol/l to 0.53 mmol/l 7 d after foals were placed on the -Mg diet, and then continued to decrease at a slower rate. 3. Aorta concentrations of Ca and P, but not Mg, were positively correlated with the period of time foals were given the -Mg diet, verifying histopathological findings. Results for both aorta Ca and P analyses and histopathological studies indicated that mineralization of the aorta began approximately 30-35 d after foals were placed on the -Mg diet. 4. Feeding with the -Mg diet had no significant, analytically detectable effect on brain, liver, kidney, lung, spleen, skeletal or cardiac muscle concentrations of Ca, P or Mg, although microscopic evidence of mineralization was seen in some of these tissues from foals given the Mg diet for 71-180 d. 5. A significant negative correlation was found between bone ash concentrations of Mg (rib, metacarpus and metatarsus) and the length of time foals were fed on the Mg diet. Bone ash concentrations of Ca and P were, however, unchanged. 6. Low serum Mg values and negative correlations between the bone ash concentration of Mg and the period of time foals were fed on the -Mg diet supplemented with 390 mg. Mg as MgO/kg were interpreted as suggesting that either this level of Mg supplementation is marginal for the growing foal, or that the Mg in MgO is not readily available to the growing foal.
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PMID:Influence of magnesium deficiency on horse foal tissue concentraion of Mg, calcium and phosphorus. 114 53

Asymmetric septal hypertrophy, or ASH, is a genetically determined myocardial disorder that is transmitted as an autosomal dominant trait. ASH is characterized by a disproportionately thickened ventricular septum that contains numerous hypertrophied, bizarrely-shaped and disorganized cardiac muscle cells. Disproportionate hypertrophy of the ventricular septum has also been observed in association with certain congenital cardiac malformations. To determine whether such congenital cardiac malformations are part of the disease spectrum of genetically determined ASH, cardiac pathologic observations were made in eight patients with disproportionate septal thickening (ventricular septal to posterobasal left ventricular free wall thickness ratios of 1.5 to 2.5) and the following three categories of associated lesions: 1) parachute deformity of the mitral valve (occurring either as an isolated lesion or with ventricular septal defect, coarctation of the aorta, supravalvular ring of the left atrium, or double outlet right ventricle); 2) complete interruption of the aortic arch; and 3) ventricular septal defect. The arrangement of cardiac muscle cells in the disproportionately thickened ventricular septum was normal in six of the eight patients; in the other two patients (one with parachute deformity of the mitral valve and one with ventricular septal defect) numerous bundles of hypertrophied cardiac muscle cells were interlaced in a disorganized fashion among more normally arranged bundles of cells. First degree relatives of six of the eight patients were studied by echocardiography and found to have normal ventricular wall thicknesses and septal-free wall ratios. It is concluded that disproportionate ventricular septal thickening may occur in patients with a variety of congenital heart malformations, but that such a finding is not necessarily a manifestation of the disease spectrum of genetically determined ASH.
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PMID:Congenital heart malformations associated with disproportionate ventricular septal thickening. 123 79

Left ventricular (LV) hypertrophy has been repeatedly shown to be associated with a marked increase in mortality risk. Available data, however, do not provide evidence that the risk associated with the increase in cardiac muscle mass is independent of the severity of preexistent coronary artery disease. In a cohort of predominantly black patients with a high prevalence of hypertension and LV hypertrophy, LV mass as estimated by echocardiography was found to be a powerful prognostic factor independent of ejection fraction and obstructive coronary disease. After excluding patients with either a dilated LV cavity (diastolic internal diameter greater than 5.8 cm) or asymmetric septal hypertrophy (septal:posterior wall ratio greater than 1.5) LV mass/height remained significantly increased in decedents compared to survivors (116 +/- 38 vs 131 +/- 47 g/m, p = 0.014), while the thickness of the ventricular septum and the posterior wall were even more highly predictive of a fatal outcome (p = 0.003 and 0.001, respectively). After exclusion of patients with eccentric LV hypertrophy, differences in LV muscle mass in survivors and decedents were due entirely to increased thickness of the ventricular wall, and no differences in cavity dimensions or LV ejection fraction were noted. Stepwise regression analysis was used to demonstrate that measures of LV hypertrophy were the most important predictors of survival and eliminated the contribution of all other prognostic factors to the model except the number of stenotic vessels. The relative risk associated with a 100-g increase in mass was 2.1, while a 0.1-cm increase in posterior wall thickness was associated with approximately a 7-fold increase in the risk of dying.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Left ventricular hypertrophy is associated with worse survival independent of ventricular function and number of coronary arteries severely narrowed. 213 65


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