Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatic tumors have been associated with oral contraceptive (OC) use. Klatkin's literature review of 1976 yielded a total of 237 cases of OC-associated hepatic tumors; 9% of these were considered malignant. This paper presents a case of liver cell adenoma which developed when a 34-year old patient was using OCs. Contraceptive use was discontinued and the lesion regressed, but a hepatocellular carcinoma developed 3 years later. The woman presented in 1976 complaining of acute right upper quadrant abdominal pain. A hemorrhagic hepatic tumor 16 cm in diameter was diagnosed after an exploratory laparotomy. The patient discontinued use of Ovulen 21 which she had been using for 5 years and was followed up with serial liver scans. The mass shrank to approximately 5 cm in diameter by January 1979 and remained stable until November 1979 when liver scan revealed that the tumor had reverted to its 16 cm size. In December 1979, a partial hepatectomy was done but it was complicated by a cardiac arrest. A postpericardiotomy syndrome developed after the operation. 5 weeks postoperatively, in January 1980, the patient suffered constrictive pericarditis and a pericardial stripping operation was done. The patient later died of sepsis with high output cardiac failure, shock, and adult respiratory distress syndrome. Ultrastructural studies of the tumor revealed a well-differentiated hepatocellular carcinoma. The features of the tumor (e.g., travecular growth, necrosis, hemorrhage) have been the criteria, in addition to vascular invasion and metastases, used to classify previously reported cases as malignant. Autopsy of the patient revealed no metastatic lesions. Cytoplasmic structures suggestive of a phospholipid disturbance were also observed and were thought to be related to drug interference with phospholipid metabolism. An interesting observation was the regression of the tumor after discontinuance of pill use. The mechanisms of its renewed growth and its malignant change remain unknown. Lesions such as this should be given a guarded prognosis even if the appearance is benign. Possible metabolic or enzyme deficiency in the few women in whom hepatic tumors develop is raised.
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PMID:Hepatocellular adenoma. Its transformation to carcinoma in a user of oral contraceptives. 626 14

Hypergalactosaemia was discovered in a newborn girl during routine metabolic screening. Hereditary enzyme deficiency was ruled out. She had multiple hepatic haemangiomas with portal-hepatic venous and hepatic arterio-venous shunts. Since she showed signs of high-output heart failure due to the arterio-venous shunt, hepatic artery embolization was performed at age 3 months. A galactose tolerance test was performed before and after embolization and when the haemangioma no longer appeared on ultrasonography. Even after embolization, the level of blood galactose was abnormally elevated in the galactose tolerance test, but the blood galactose was eliminated more rapidly than before embolization. When the hepatic haemangioma was no longer detected by ultrasonography, the peak galactose level decreased. We surmise that the hypergalactosaemia was due to these shunts. In cases of hypergalactosaemia of unknown cause; liver haemangioma with portal-hepatic venous shunting should be considered as a possible cause. If a hepatic arterio-venous shunt also exists, this may contribute to the effect of the portosystemic shunting.
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PMID:Hypergalactosaemia in a patient with portal-hepatic venous and hepatic arterio-venous shunts detected by neonatal screening. 813 18

At the 28th week of gestation a hydrops fetalis was first detected by ultrasound. At birth a generalized hydrops with Hurler-like craniofacial dysmorphism, hepatosplenomegaly and a moderate dystostosis multiplex was noted. High urinary excretion of oligosaccharides and a severe deficiency of neuraminidase and of beta-galactosidase in cultured skin fibroblasts could be found. Thus, a rare early infantile type of galactosialidosis was diagnosed. The patient died at the age of 3 months because of cardiac failure. The consanguineous but otherwise healthy parents received genetic counselling for further pregnancies and have been informed about the possibility of prenatal diagnosis. In view of this possibility, the parents decided to have more children. In the second pregnancy a severe combined enzyme deficiency had been detected and the pregnancy interrupted. In the third pregnancy prenatal diagnosis revealed normal fetal enzyme activities. It resulted in a healthy female child and in the fourth pregnancy reduced but still in the heterozygote level enzyme activities had been found, a healthy boy was born.
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PMID:Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning. 883 67

Polysaccharide myopathy is a rare form of storage muscular disorder. The clinical picture of this particular form of myopathy is unspecific. We report a 62-year-old woman with late-onset progressive weakness and wasting, affecting proximal muscles of the four limbs and the girdles. No myalgia, dysphagia nor symptoms of cardiac failure were observed. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide. This material was strongly PAS-positive and diastase-resistant. At electron microscopy, the deposits were composed of non-membrane-bound filamentous and granular material surrounded by numerous mitochondria. No enzyme deficiency was found. Clinical presentation of our patient was similar to the 16 cases reported in the literature. She did not have myocardiopathy and her survival is much longer. Hypothetic mechanisms of polysaccharide accumulation are reviewed.
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PMID:Polysaccharide storage myopathy--case report and literature review. 1594 64

Glucose-6-phosphate dehydrogenase (G6PD) catalyzes the rate-determining step in the pentose phosphate pathway and produces NADPH to fuel glutathione recycling. G6PD deficiency is the most common enzyme deficiency in humans and affects over 400 million people worldwide; however, its impact on cardiovascular disease is poorly understood. The glutathione pathway is paramount to antioxidant defense, and G6PD-deficient cells do not cope well with oxidative damage. Limited clinical evidence indicates that G6PD deficiency may be associated with hypertension. However, there are also data to support a protective role of G6PD deficiency in decreasing the risk of heart disease and cardiovascular-associated deaths, perhaps through a decrease in cholesterol synthesis. Studies in G6PD-deficient (G6PDX) mice are mixed and provide evidence for both protective and deleterious effects. G6PD deficiency may provide a protective effect through decreasing cholesterol synthesis, superoxide production, and reductive stress. However, recent studies indicate that G6PDX mice are moderately more susceptible to ventricular dilation in response to myocardial infarction or pressure overload-induced heart failure. Furthermore, G6PDX hearts do not recover as well as nondeficient mice when faced with ischemia-reperfusion injury, and G6PDX mice are susceptible to the development of age-associated cardiac hypertrophy. Overall, the limited available data indicate a complex interplay in which adverse effects of G6PD deficiency may outweigh potential protective effects in the face of cardiac stress. Definitive clinical studies in large populations are needed to determine the effects of G6PD deficiency on the development of cardiovascular disease and subsequent outcomes.
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PMID:Impact of glucose-6-phosphate dehydrogenase deficiency on the pathophysiology of cardiovascular disease. 2324 20

Heart failure (HF) is associated with changes in cardiac substrate utilization and energy metabolism, including a decline in high-energy phosphate content, mitochondrial dysfunction, and phosphotransfer enzyme deficiency. A shift toward glucose metabolism was noted in the end stage of HF in animals, although HF in humans may not be associated with a shift toward predominant glucose utilization. Deficiencies of micronutrients are well-established causes of cardiomyopathy. Correction of these deficits can improve heart function. The genes governing the energy metabolism were predominantly underexpressed in nonischemic cardiomyopathy and hypertrophic cardiomyopathy but were overexpressed in ischemic cardiomyopathy. Cardiac resynchronization therapy (CRT) has been proven to increase cardiac efficiency without increasing myocardial oxygen consumption. Altered myocardial metabolism is normalized by CRT to improve ventricular function.
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PMID:The Modulating Effects of Cardiac Resynchronization Therapy on Myocardial Metabolism in Heart Failure. 2780 72