Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myocardial glucose metabolism has been shown to be heterogeneous in patients with hypertrophic cardiomyopathy (HCM). We tested the hypothesis that myocardial glucose metabolism differs between patients with HCM and those with hypertensive heart disease (HHD) associated with asymmetrical septal hypertrophy. We studied 12 patients with HCM, 7 HHD patients associated with asymmetrical septal hypertrophy using 18F 2-deoxyglucose (FDG) and positron emission tomography. We calculated % FDG fractional uptake in the inter-ventricular septum and posterolateral wall. Heterogeneity of FDG uptake was evaluated by % interregional coefficient of variation of FDG fractional uptake in each wall segment. In both the interventricular septum and posterolateral wall, % FDG fractional uptake was not significantly different between the two groups. The % interregional coefficient of variation for both interventricular septum (10.6 +/- 1.6 vs. 4.1 +/- 0.5, p < 0.01) and posterolateral wall (5.9 +/- 0.7 vs. 3.8 +/- 0.5, p < 0.05) was significantly larger in patients with HCM than in HHD patients associated with asymmetrical septal hypertrophy. Echocardiography demonstrated that the degree of asymmetrical septal hypertrophy was similar between the two groups. These results suggest that myocardial glucose metabolism may be more heterogeneous in patients with HCM compared to HHD patients associated with asymmetrical septal hypertrophy, although the left ventricular shape is similar. The difference in the heterogeneity might have resulted from differences in the pathogeneses of the two diseases.
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PMID:Myocardial glucose metabolism is different between hypertrophic cardiomyopathy and hypertensive heart disease associated with asymmetrical septal hypertrophy. 926 31

123I-MIBG scintigraphy was performed in two patients with hypertrophic cardiomyopathy. These patients showed marked asymmetrical wall thickening in the left ventricle. The findings of 123I-MIBG scintigraphy in the thickened wall were regional increased washout and defect in the delayed images with preserved 201Tl uptake. This mismatched finding, which is correlated with ventricular tachycardia, gives useful information for follow-up of the patients with HCM.
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PMID:[Two patients with hypertrophic cardiomyopathy showing regionally increased washout of 123I-MIBG from the thick myocardium]. 969 64

Hypertrophic cardiomyopathy (HCM) is the most common form of feline heart disease. Affected cats have concentrical or asymmetrical left ventricular hypertrophy without an identifiable cause. Although many diseases can cause concentrical left ventricular hypertrophy, the term hypertrophic cardiomyopathy is used here exclusively to refer to the idiopathic disease.
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PMID:Therapy of feline hypertrophic cardiomyopathy. 1009 48

Familial hypertrophic cardiomyopathy (FHC) is a cardiomyopathy that occurs in 0.2% of the general population. It is characterized by asymmetrical hypertrophy of the ventricle, predominantly the intraventricular septum. FHC is caused by genetic mutations in several of the sarcomeric proteins, such as myosin heavy chain, troponin T, troponin I, alpha-tropomyosin, essential and regulatory light chains of myosin, and the cardiac myosin-binding protein C. FHC is genetically heterogeneous, and, therefore, it is associated with a very diverse clinical presentation in terms of altered cardiac structure and clinical manifestations. The most severe manifestation is sudden death. The purpose of this article is to provide the reader with new insights into the genetic mutations that give rise to FHC and to discuss risk factors that are associated with severe hypertrophy and sudden death in this population.
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PMID:Familial hypertrophic cardiomyopathy. 1038 71

The present study investigated gender differences among adult patients with obstructive hypertrophic cardiomyopathy (OHCM) and resting gradient. Using outflow gradients >10 mmHg and the presence of asymmetrical septal hypertrophy of the left ventricle as inclusion criteria, 122 patients were identified among patients referred for echocardiographic examinations between May 1990 and October 1996. Clinical, echocardiographical and follow-up data were compared between male and female patients. The female patients were significantly older than male patients (mean age +/-SD 66.7+/-10.5 vs 54.8+/-12.5 years). The female patients had a smaller interventricular septal wall thickness, less frequent systolic anterior movement of the mitral valve, more frequent association with hypertension, and less frequent association with ischemic heart disease (IHD) and giant T wave inversion. In this study population, adult female patients presented with OHCM 12 years later than males. Whether this represents female patients' reluctance to seek medical attention early, a different disease process that affects predominantly elderly females, or a gender-specific end organ response to aging, hypertension, IHD and other processes, or the protective effects of estrogen remains to be determined.
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PMID:Gender differences in the presentation of adult obstructive hypertrophic cardiomyopathy with resting gradient: a study of 122 patients. 1059 91

A 62-year-old man was referred to our hospital for investigation of abnormal electrocardiography findings. The mean frontal plane QRS axis was directed toward the right superior quadrant(-125 degrees). Terminal S waves were present in all 3 bipolar standard leads and an R wave in lead aVR. RS complex was seen in lead V1 and deep S waves in leads V2-V6. Left ventricular hypertrophy associated with asymmetrical septal hypertrophy was suspected based on transthoracic echocardiography, but the echocardiographic quality was poor. Magnetic resonance imaging revealed hypertrophic cardiomyopathy with massive wall thickening involving the right anterobasal region of the ventricular septum. Magnetic resonance imaging may provide useful information about the distribution of ventricular myocardial hypertrophy in patients with hypertrophic cardiomyopathy and unusual electrocardiography findings.
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PMID:Hypertrophic cardiomyopathy with dominant hypertrophy in the right anterobasal region of the ventricular septum: a case report. 1092 65

Although echocardiography is a useful diagnostic tool in hypertrophic cardiomyopathy (HCM), it is sometimes difficult to differentiate it from hypertensive heart disease (HHD): some patients with HCM show symmetrical hypertrophy, whereas patients with HHD sometimes show asymmetrical septal hypertrophy. We used a radioiodinated long-chain fatty acid tracer to visualize the altered myocardial fatty acid metabolism of HCM and HHD. Carnitine is the essential substance for the beta-oxidation of long-chain fatty acids. We recently reported that serum free carnitine levels in HCM were elevated and that they were significantly correlated with the severity of myocardial fatty acid metabolic disorder. Therefore, we investigated serum carnitine levels in patients with HCM and HHD, which can contribute to the differentiation of each other. We studied 56 patients with HCM and 20 patients with essential hypertension. Serum free carnitine levels were significantly higher in patients with HCM than those with HHD (HCM 52.5+/-9.5 nmol/mL, HHD 46.6+/-6.4 nmol/mL, P<0.01), but they showed no statistical difference between patients with HHD and normal subjects. Serum acylcarnitine levels were significantly lower in patients with HCM than those with HHD (HCM 10.1+/-4.0 nmol/mL, HHD 14.5+/-4.9 nmol/mL, P<0.0005), although they did not differ between patients with HHD and normal subjects. Scintigraphic analyses with a long-chain fatty acid analog revealed that myocardial tracer uptake was much reduced in patients with HCM compared with that in patients with HHD (quantitative analysis: HCM 2.11+/-0.12, HHD 2.22+/-0.17, P<0.05; semiquantitative analysis: HCM 13.6+/-6.3, HHD 2.0+/-1.5, P<0.0001). In conclusion, the differences in serum carnitine levels between HCM and HHD reflect altered myocardial fatty acid metabolic impairment, and the levels can help to distinguish these 2 diseases.
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PMID:Can serum carnitine levels distinguish hypertrophic cardiomyopathy from hypertensive hearts? 1094 80

Mutations of the cardiac beta-myosin heavy-chain (beta-MHC) gene cause hypertrophic cardiomyopathy (HCM). Recent genotype-phenotype correlation studies have shown that mutations carry prognostic significance. We studied five unrelated Chinese families with hypertrophic cardiomyopathy. Exons 3-27 and 40 of the beta-MHC gene were screened with both the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) method and the cycle sequencing of the PCR products. A previously reported heterozygous mutation Arg719Gln (arginine-->glutamine in codon 719) in exon 19 was found in one family. The proband is a 30-year-old female diagnosed at age of 25 years when she presented with symptoms of chest pain, palpitations, and frequent incidents of dizziness and syncope. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atrial enlargement. There was no obstruction of the left ventricular outflow tract (LVOT). The patient also developed atrial fibrillation. The proband's mother and one of her sisters had similar clinical manifestations and both died suddenly at the age of 38 years. In addition, two silent nucleotide substitutions (ACT63ACC, TTT244TTC) in the cardiac beta-MHC gene were identified in the other four families. These synonymous mutations did not cosegregate with the disease in the families and they were also present in the 60 healthy and age-matched control subjects. Of the five families studied, we did not find any missense mutation in the remaining four families. The missense mutation Arg719Gln found in the Chinese family is associated with a malignant phenotype of severe clinical symptoms and poor survival prognosis. This mutation also causes atrial enlargement and atrial fibrillation. Our study provides further evidence that the mutation, which alters the charge of the myosin heavy chain, is associated with a serious clinical outcome.
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PMID:A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family. 1149 78

Genetic analysis of hypertrophic cardiomyopathy (HCM), a mendelian form of cardiac hypertrophy, indicates that the primary defect is in sarcomeric function. However, the initial proposal that depressed myocardial contraction leads to a 'compensatory' hypertrophy has proven inconsistent with laboratory and clinical evidence. Drawing on observations of mutant contractile protein function, together with mouse models and clinical studies, we propose that sarcomeric HCM mutations lead to inefficient ATP utilization. The suggestion that energy depletion underlies HCM is supported by the HCM-like phenotype found with mutations in a variety of metabolic genes. A central role for compromised energetics would also help explain the unresolved clinical observations of delayed onset and asymmetrical hypertrophy in HCM, and would have implications for therapy in HCM and, potentially, in more-common forms of cardiac hypertrophy and failure.
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PMID:Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion. 1271 Dec 18

Hypertrophic cardiomyopathy is an autosomal dominant disease characterized by asymmetrical left ventricular hypertrophy, myocyte disarray, interstitial fibrosis, and small vessel disease. More than 100 mutations in 10 genes, all encoding for sarcomeric proteins, have been identified as responsible for this disease. While the etiology of hypertrophic cardiomyopathy has been extensively elucidated, its pathogenesis is not completely understood. Mutated proteins are incorporated in the sarcomere and impair myocyte contractility. This probably triggers the compensatory local release of trophic factors, which influence the development of the typical anatomical features of the disease. Modifying genes or the effect of environmental or local factors is likely to play a role. Interstitial fibrosis is a morphological characteristic of hypertrophic cardiomyopathy and, increasing chamber stiffness, is an important determinant of diastolic dysfunction. Studies on transgenic animals with hypertrophic cardiomyopathy emphasize the role of interstitial fibrosis in this disease. Recently our group has shown that collagen turnover, evaluated through serum markers of collagen metabolism, is more active in patients with hypertrophic cardiomyopathy than in normal subjects and that patients with passive diastolic dysfunction accumulate collagen I. These studies are potentially relevant as they allow to assess the effects of therapy with cardioreparatory drugs.
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PMID:[Myocardial interstitial fibrosis and diastolic dysfunction in hypertrophic cardiomyopathy]. 1465 60


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