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)

A 27-year-old female with short stature and mild hearing loss was diagnosed as having focal-segmental glomerulosclerosis by renal biopsy at our hospital. One year later she developed progressive renal dysfunction and cardiac failure and was admitted again to our hospital for evaluation. Though her only neurological disorder was mild hearing loss, her short stature and elevated lactate and pyruvate values in cerebrospinal fluid suggested mitochondrial cytopathy. A muscle biopsy specimen of the left biceps brachii, using modified Gomori trichrome stain, showed a typical image of ragged-red fibers, and an increased number of giant mitochondria with paracrystalline inclusions were visible by electron microscopy. Mitochondrial DNA from the skeletal muscle showed an A-to-G transition at 3243 of transfer RNALeu(UUR), the common point mutation for mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. These data confirmed the diagnosis of atypical mitochondrial cytopathy with renal and heart involvement. Mitochondrial cytopathies are often associated with hypertrophic cardiomyopathy but rarely with renal disease. Among the few reported cases with associated renal disease, most included renal tubular disorders; few cases with focal glomerular sclerosis are known. The present case of atypical mitochondrial cytopathy was characterized by a unique clinical course and rare complications with focal-segmental glomerulosclerosis.
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PMID:A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. 984 35

We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). A hypotrophic newborn from a consanguineous marriage presented severe lactic acidosis, cardiomegaly and hepatomegaly and died from heart failure after 2 days. The activity of oligomycin-sensitive ATPase was only 31-34% of the control, both in muscle and heart, but the activities of cytochrome c oxidase, citrate synthase and pyruvate dehydrogenase were normal. Electrophoretic and western blot analysis revealed selective reduction of ATPase complex but normal levels of the respiratory chain complexes I, III and IV. The same selective deficiency of ATPase was found in cultured skin fibroblasts which showed similar decreases in ATPase content, ATPase hydrolytic activity and level of substrate-dependent ATP synthesis (20-25, 18 and 29-33% of the control, respectively). Pulse-chase labelling of patient fibroblasts revealed low incorporation of [(35)S]methionine into assembled ATPase complexes, but increased incorporation into immunoprecipitated ATPase subunit beta, which had a very short half-life. In contrast, no difference was found in the size and subunit composition of the assembled and newly produced ATPase complex. Transmitochondrial cybrids prepared from enucleated fibroblasts of the patient and rho degrees cells derived from 143B. TK(-)human osteosarcoma cells fully restored the ATPase activity, ATP synthesis and ATPase content, when compared with control cybrids. Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We conclude that the generalized deficiency of mitochondrial ATPase described is of nuclear origin and is caused by altered biosynthesis of the enzyme.
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PMID:A novel deficiency of mitochondrial ATPase of nuclear origin. 1048 64

Beriberi (BB), thiamine deficiency, has been described in the Asian literature in the 17th century and is characterized by peripheral neuropathy and muscle weakness, also called "dry" beriberi (BB) to differentiate it from "wet" BB, with essentially cardiovascular manifestations. Wet can be either "classic" wet BB in which signs and symptoms of right-sided heart failure with normal or high cardiac output are the presenting features or the "shoshin" BB variant with severe biventricular failure and metabolic acidosis, which must be treated early to prevent the rapid development of low cardiac output failure and sudden death. In this case, we report a 58 year old alcoholic woman who developed dyspnea, oliguria, edema, cardiac failure with high output, metabolic acidosis, renal tubular dysfunction and serum lactate level of 5.6 mEq/L. Neurological examination revealed peripheral neuropathy in the lower legs and cognitive alteration. She was treated with a loading dose of 100 mg of intravenous thyamine and responded with a marked increase in urine output, correction of acidosis, reduction in pulmonary-capillary wedge pressure and a change of the hemodynamic pattern. We conclude that shoshin-BB is uncommonly encountered but not widely recognized. In lactic acidosis and/or hyperdynamic circulation without any other apparent etiology in patients with possible vitamin B1 deficiency, the diagnosis of BB must be considered and thiamine should be administered.
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PMID:[Acute cardiovascular beriberi (shoshin-beriberi)]. 1232 90

In an 80-year old woman with chronic heart failure due to cardiomyopathy, left ventricular non-compaction, also termed left ventricular hypertrabeculation, in the apex, the lateral wall, the posterior wall and proximally to the papillary muscles was diagnosed on echocardiography, two days before decease. Autopsy three days after echocardiography revealed thin and thick, red and white threads closely interwoven to an irregular meshwork. Echocardiography correctly localised non-compaction, but did not detect the fine meshwork and could not differentiate between the compacted and non-compacted layer of the myocardium. Cardiomyopathy was attributed to cardiac involvement in metabolic myopathy, retrospectively diagnosed upon the clinical presentation, recurrent creatine-kinase elevation, lactacidosis, and the presence of non-compaction, frequently associated with neuromuscular disorders.
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PMID:Non-compaction on echocardiography and autopsy. 1271 11

One of the most important achievements in the contemporary intensive care management is introduction of continuous renal replacement therapy (CRRT). The most common indications for CRRT are acute renal failure complicated with heart failure, volume overload, hypercatabolism, acute or chronic liver failure, and/or brain swelling. Less common indications include systemic inflammatory response (SIRS), sepsis, multiorgan failure (MOF), adult respiratory distress syndrome, crush syndrome, tumor lysis syndrome, lactacidosis, and chronic heart failure. Methods of CRRT could be used during or after open heart operations, heart, lung or/and liver transplantation in adults and children. Modern approach to treatment of acute renal failure introduces dialysis early in the course of disease in order to avoid complications on other organs. Sepsis, SIRS and septic shock are still major therapeutic problems in intensive care units with a mortality rate over 50%. Numerous uncontrolled and several controlled clinical studies have demonstrated that CRRT could remove inflammatory substances including cytokines, activated components of the complement, and derivatives of the arachidonic acid. Hemodynamic stability and gas exchange in the lungs were significantly improved. These is due not only to removal of inflammatory substances but also to other nonspecific hemodynamic effects (control of body temperature, fluid and metabolic balance). Besides the convection, cytokines could be removed from the plasma with adsorption on the membrane of dialyzer or hemofilter. Prophylactic use of CCRT in patients with normal renal function, without disturbances in fluid excretion and with normal hemodynamics is still controversial, while the possible benefit is not higher than the risks of invasive therapeutic method, and there is no evidence that prophylactic CCRT could prevent development of acute renal failure in these patients. However, current knowledge of MOF pathophysiology justifies the use of CRRT in patients with signs of heart failure, disturbances in metabolic and fluid homeostasis and sepsis, and in patients with the risk of developing acute respiratory failure or MOF, despite the mild impairment of renal function according to laboratory results.
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PMID:[Indications for continuous renal function replacement therapy]. 1287 69

Mesenteric ischemia is an important clinical condition becoming more prevalent with aging of the population. Mesenteric ischemia may be manifest in an acute presentation, usually secondary to thromboembolism or cardiac insufficiency. Patients have abdominal pain, lactic acidosis, benign abdominal examination, and, often, coexistent multisystem organ dysfunction. Chronic mesenteric ischemia is secondary to proximal arterial stenosis or occlusions inadequately compensated by collateral flow. Clinical presentation may simulate occult malignancy. In this review article, the role of Doppler sonography and other diagnostic imaging tests in suspected acute mesenteric ischemia and mesenteric arterial insufficiency are evaluated with emphasis on diagnostic criteria and appropriate use in each clinical context.
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PMID:Mesenteric ischemia. 1297 81

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
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PMID:Mitochondriopathies. 1500 63

Acute thiamine deficiency, an uncommon cause of hemodynamic instability in Western countries, may be manifested by acute heart failure and neurological deficits. Severe metabolic acidosis is one of its least recognized features. We present a report of foreign workers who complained of weakness and lower limb edema and were found to have acute thiamine deficiency. One died of refractory metabolic acidosis and shock, and the diagnosis was reached post mortem. Thiamine deficiency should be considered in every case of severe lactic acidosis without an obvious cause, especially in high-risk populations (malnourished, alcoholics, Far-East workers, etc). Whenever it is suspected, empiric treatment with thiamine should be initiated immediately. Physicians who care for populations at risk should be familiar with the clinical spectrum of nutritional deficits, and monitor the nutritional habits of these patients carefully. The treatment is inexpensive and devoid of adverse effects. Moreover, delaying thiamine administration in patients with deficiency may cause severe life-threatening metabolic acidosis and affect recovery. The prophylactic use of thiamine in a high-risk population, even before blood levels are received, may be cost effective.
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PMID:Fatal metabolic acidosis caused by thiamine deficiency. 1502 27

Five types of oral antihyperglycemic drugs are currently approved for the treatment of diabetes: biguanides, sulfonylureas, meglitinides, glitazones, and alpha-glucosidase inhibitors. The cardiovascular effects of the most commonly used antidiabetic drugs in these groups are briefly reported, in an attempt to improve knowledge and awareness regarding their influences and potential risks when treating patients with coronary artery disease (CAD). Regarding biguanides, gastrointestinal disturbances such as diarrhea are frequent, and the intestinal absorption of group B vitamins and especially folate is impaired during chronic therapy. This deficiency may lead to increased plasma homocysteine levels which, in turn, accelerate the progression of vascular disease due to adverse effects on platelets, clotting factors, and endothelium. The existence of a graded association between homocysteine levels and overall mortality in patients with CAD is well established. In addition, metformin may lead to lethal lactic acidosis, especially in patients with clinical conditions that predispose to this complication, such as heart failure or recent myocardial infarction. Sulfonylureas avoid ischemic preconditioning. During myocardial ischemia, they may prevent the opening of the ATP-dependent potassium channels, impeding the necessary hyperpolarization that protects the cell by blocking calcium influx. Meglitinides may exert similar effects, due to their analogous mechanism of action. During treatment with glitazones, edema has been reported in 5% of patients, and these drugs are contraindicated in diabetics with NYHA class III or IV cardiac status. The long-term effects of alpha-glucosidase inhibitors on morbidity and mortality rates and on diabetic micro- and macrovascular complications are yet unknown. The combined sulfonylurea/metformin therapy reveals additive effects on mortality. It is concluded that(1) four of the five oral antidiabetic drug groups present proven or potential cardiac hazards;(2) these hazards are not mere "side effects", but are deeply rooted in the drugs' mechanism of action;(3) current data indicate that the combined glibenclamide/metformin therapy seems to present special risk and should be avoided in the long-term management of type 2 diabetics with proven CAD; and(4) customized antihyperglycemic pharmacological approaches should be investigated for optimal treatment of diabetic patients with heart disease.
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PMID:Oral antidiabetic therapy in patients with heart disease. A cardiologic standpoint. 1516 55

Over the past decade, the course of human immunodeficiency virus (HIV) infection has been markedly altered by highly active antiretroviral therapy (HAART). As advances in early diagnosis and aggressive therapy, as well as better supportive care, become available to more HIV-infected patients, survival is being prolonged and more patients are experiencing cardiac abnormalities. Cardiovascular manifestations of pediatric HIV infection have especially proven to be an ongoing challenge to practicing physicians, who face cardiac abnormalities ranging from asymptomatic cardiomyopathy to severe heart failure. Antiretroviral therapy has substantially decreased vertical transmission of HIV; however, studies of adults receiving HAART have found increased peripheral and coronary artery disease. Children exposed to this therapy in utero are thus at an increased risk for toxicity and cardiac abnormalities, regardless of their HIV status. Preliminary studies have reported complications including lactic acidosis and mitochondrial toxicity, as well as cardiomyopathy. Further studies are needed to explore the long-term effects and possible toxicities of prophylactic antiretroviral therapy on infants born to HIV-infected mothers.
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PMID:Cardiovascular effects of HAART in infants and children of HIV-infected mothers. 1547 Feb 74


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