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)

Phosphorylase isoenzymes were studied by acrylamide-slab electrophoresis in normal tissues and in the heart of a child with a fatal infantile form of myophosphorylase deficiency. Of the three bands present in normal human heart, two were missing in the patient's heart: the slow "muscle" isoenzyme and the intermediate band. Only the fast "cardiac" isoenzyme remained. When extracts of normal skeletal muscle and the patient's heart were mixed in appropriate conditions, the intermediate band reappeared in the electropherogram. Phosphorylase activity in extracts of the patient's heart was not inhibited by antibodies against purified enzyme from mature human muscle, whereas normal human heart phosphorylase was inhibited by approximately 50%. These results suggest that the intermediate band of human heart phosphorylase is a hybrid of skeletal and cardiac muscle isoenzymes. Retained activity of the cardiac isoenzyme may explain why patients genetically lacking skeletal muscle phosphorylase do not have clinical heart disease.
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PMID:Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. 29 91

The authors examined, using histochemical methods, the AV conduction system in five infants and two children who died unexpectedly with a congenital heart disease. The activity of "glycogen dependent" phosphorylase in the AV conduction system was mostly negative or weak. The probable cause of this finding is hypoxia, although the effect of hypotrophy must be admitted. In groups of cells penetrating into connective septal tissue a decrease of oxidoreductases and hydrolases was found. These findings may be associated with regressive changes in the postnatal reduction of the AV conduction system.
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PMID:[Histochemical findings in the atrioventricular conduction system in congenital heart defects]. 163 54

Methods have been developed for measuring several biochemical parameters (isoenzymes of LDH and ASAT, glycogen phosphorylase, lipid peroxides) in extremely small tissue samples (0.2-1.8 mg) taken using a left ventricular biopsy technique. Endomyocardial biopsies from patients with dilative and hypertrophic cardiomyopathy (CMP) and with myocarditis were investigated and compared with a reference group without actual functional and morphological evidence of chronic heart disease. Patients with myocarditis showed the highest activities of LDH and its isoenzymes, ASAT, ASATm and glycogen phosphorylase and the highest concentration of lipid peroxides. In patients with hypertrophic CMP increased activities of glycogen phosphorylase and decreased activities of ASAT and ASATm have been found. In patients with dilative CMP slightly elevated ASAT and ASATm activities have been observed. The results obtained in this study suggest that the parameters investigated could be useful in differentiating between cardiomyopathies and myocarditis.
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PMID:Enzyme pattern and lipid peroxides in endomyocardial biopsies from patients with cardiomyopathy and myocarditis. 337 58

A caesarean section was indicated in a 29-year-old parturient affected by a muscular deficit in myophosphorylase responsible for a type V glycogen storage disease (McArdle disease). This metabolic myopathy had been diagnosed two years previously, whereas the patient already suffered from a hereditary form of dilated cardiomyopathy. The muscular disease was invalidating on the functional level with exercise intolerance. The cardiopathy was little symptomatic but the dysfunction of the left ventricle worsened during the pregnancy with an ejection fraction calculated to 43%. In this case, we report the realization of a general anaesthesia in a patient who had epidural anaesthesia for a previous caesarean section.
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PMID:[Anesthesia for cesarean section in a patient with McArdle disease and hereditary dilated cardiomyopathy]. 1213 96

Acute coronary syndrome is a set of symptoms interpreted as being the result of cardiac ischemia. The subtypes of acute coronary syndrome, depending on the degree of cardiac ischemia, include unstable angina and two forms of myocardial infarction. Determination of serum cardiac markers plays a key role in the diagnosis of acute myocardial infarction. Serum markers such as aspartate transaminase, lactate dehydrogenase, and creatine kinase are no longer used because they lack cardiac specificity and sensitivity. According to the NACB (National Academy of Clinical Biochemistry) recommendations, two serum cardiac markers need to be determined for routine diagnosis of acute myocardial infarction, i.e. one showing early elevation in serum (up to six hours after chest pain), and the other, late marker that is elevated six to nine hours after chest pain, has high sensitivity and specificity for detection of myocardial injury, and remains elevated for several days of the symptom onset. In current clinical practice, myoglobin, CKMB mass (improved diagnostic sensitivity in relation to CKMB activity) and cardiac troponins are commonly determined. CKMB mass is a cardiospecific marker, but can also be elevated in skeletal muscle damage. Myoglobin is not cardiospecific, but has high early sensitivity (fast and reliable exclusion of acute myocardial infarction) and the possibility of rapid assessment of the success of thrombolytic therapy. Cardiac troponins are late markers for the diagnosis of myocardial injury. They are markers with highest specificity and sensitivity for acute myocardial infarction. New markers such as ischemia modified albumin, heart fatty acid binding protein, glycogen phosphorylase isoenzyme BB, carboanhydrase 3, and new tehnologies are under investigation to advance our knowledge about heart disease.
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PMID:[Biochemical markers in the diagnosis of acute coronary syndrome]. 1968 56

Cardiac metabolic stress is a hallmark of many cardiac pathologies, including diabetes. Cardiac glycogen mis-handling is a frequent manifestation of various cardiopathologies. Diabetic females have a higher risk of heart disease than males, yet sex disparities in cardiac metabolic stress settings are not well understood. Oestrogen acts on key glycogen regulatory proteins. The goal of this study was to evaluate sex-specific metabolic stress-triggered cardiac glycogen handling responses. Male and female adult C57Bl/6J mice were fasted for 48h. Cardiac glycogen content, particle size, regulatory enzymes, signalling intermediates and autophagic processes were evaluated. Female hearts exhibited 51% lower basal glycogen content than males associated with lower AMP-activated-kinase (AMPK) activity (35% decrease in pAMPK:AMPK). With fasting, glycogen accumulated in female hearts linked with decreased particle size and upregulation of Akt and AMPK signalling, activation of glycogen synthase and inactivation of glycogen phosphorylase. Fasting did not alter glycogen content or regulatory proteins in male hearts. Expression of glycogen autophagy marker, starch-binding-protein-domain-1 (STBD1), was 63% lower in female hearts than males and increased by 69% with fasting in females only. Macro-autophagy markers, p62 and LC3BII:I ratio, increased with fasting in male and female hearts. This study identifies glycogen autophagy ('glycophagy') as a potentially important component of the response to cardiac metabolic stress. Glycogen autophagy occurs in association with a marked and selective accumulation of glycogen in the female myocardium. Our findings suggest that sex-specific differences in glycogen handling may have cardiopathologic consequences in various settings, including diabetic cardiomyopathy.
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PMID:Myocardial glycophagy - a specific glycogen handling response to metabolic stress is accentuated in the female heart. 2408 Jan 83