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

We report about a 17 year old male patient with a cardiomyopathy secondary to type IV glycogenosis (Andersens disease) and class II immunoglobulin deficiency who underwent cardiac transplantation. The patient first developed symptoms of heart failure at the age of twelve. The histologic diagnosis was cardiomyopathy secondary to glycogenosis. In addition, the patient suffered recurrent pulmonary infections and developed bronchiectases in the left lower lobe. This region was atelectatic since he was eleven. The patient did have two younger brothers who died of congestive heart failure at the age of nine and ten. Neither his parents nor anybody else of his relatives had a history of heart failure or glycogenosis. Since the patient suffered recurrent cardiac decompensations with the need for catecholamines he was accepted for cardiac transplantation although several relative contraindications to transplantation such as cachexia, myopathy, immunglobulin deficiency and bronchiectases had been present. The patient was transplanted successfully. The postoperative weaning from the respirator was markedly prolonged and complicated by pulmonary infection. Furthermore, mobilization was retarded. One year after transplantation, he is in a good condition without pulmonary or systemic infection. Right ventricular endomyocardial biopsies did not show recurrence of glycogenosis in the donor organ.
 ...
PMID:[Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation]. 1055 89

Congestive heart failure is characterized by a skeletal muscle myopathy with muscle bulk loss. The mechanisms responsible for these changes are not clear at present. We have investigated the role of apoptosis in the rat "slow" soleus muscle during the development of heart failure, which was induced by injection of monocrotaline (30 mg/kg). We looked at the time course of apoptosis by studying six animals at each of the following time points: 0, 17, 24, and 30 days. We found a decreased expression of the antiapoptotic protein Bcl-2, which was accompanied by a rise of proapoptotic caspase-3. Ubiquitin levels did not change. DNA nick-end labeling showed an increased number of apoptotic nuclei both in myofibers and interstitial cells when heart failure occurred. At variance with previous observations in the fast-twitch tibialis anterior muscle in the same animals, in which tumor necrosis factor-alpha (TNF-alpha) increased at the time that apoptosis occurred, the magnitude of apoptosis is lower in soleus muscle and there is no appearance of muscle atrophy. In soleus muscle, apoptosis is accompanied by activation of the caspase-3 system. There is no activation of the TNF-alpha- and ubiquitin-dependent protein waste. In conclusion, slow muscles are less prone to develop apoptosis than fast muscles. Muscle atrophy appears earlier in these latter ones.
 ...
PMID:Apoptosis and atrophy in rat slow skeletal muscles in chronic heart failure. 1056 91

The present authors recently suggested, on the basis of studies using polymerase chain reaction (PCR), that hepatitis C virus (HCV) infection is involved in the etiology or pathogenesis of cardiomyopathic disorders. They have also reported that the serum concentration of cardiac troponin T is an indicator of ongoing myocyte degeneration in patients with dilated cardiomyopathy (DCM) and hypothesized that its serial measurement may be a marker of therapeutic efficacy. This is the first case report of DCM and striated myopathy, associated with HCV infection, treated with interferon therapy guided by monitoring of serial serum concentrations of cardiac troponin T. Positive-plus strands of HCV RNA were found in the patient's myocardium, as well as plus and minus strands in the quadriceps muscle specimens. Serum levels of creatine kinase (CK), CK-MB and cardiac troponin T fell as serum HCV titers decreased during treatment with interferon, whereas conventional treatment of heart failure had no effect. Monitoring of serial serum concentrations of cardiac troponin T may allow the earlier diagnosis and treatment of patients with HCV-associated cardiomyopathy and improve their clinical course.
 ...
PMID:Interferon treatment for dilated cardiomyopathy and striated myopathy associated with hepatitis C virus infection based on serial measurements of serum concentrations of cardiac troponin T. 1078 58

Skeletal muscle can be the site of inflammatory diseases that lead to muscle weakness, pain, and increased myogenic serum enzymes. Most of these inflammatory myopathies are idiopathic. In some cases inflammatory myopathies are due to infectious agents. We describe the pathological aspects of muscle biopsies of 2 Brazilian siblings who acquired toxoplasmosis at the same time and in similar conditions. One developed a tetraplegia that was confirmed to be due to inflammatory myositis due to toxoplasma. The other developed myocarditis, with heart failure, without skeletal muscle weakness. In both cases many toxoplasma organisms were observed in the muscle biopsies, but in case 1 only was there an inflammatory myopathy with myofiber necrosis; the inflammatory cells were predominantly macrophages with some CD4+ cells and rare CD20+ cells. In case 1, expression of CD54 was observed in many inflammatory cells as well in endothelial cells, but only in endothelial cells in case 2. After treatment with clindamycin and corticosteroids both cases had only partial improvement, case 1 with a residual muscle weakness and case 2 with residual cardiac insufficiency (requiring digoxin). These cases show that the presence of the parasite in myofibers is not enough to induce an inflammatory myositis with muscle cell necrosis. This suggests that immunological disturbances may contribute to the development of inflammatory myositis due to toxoplasma.
 ...
PMID:Skeletal muscle pathology in 2 siblings infected with Toxoplasma gondii. 1085 91

During the past 2 decades, heart transplantation has evolved from an experimental procedure to an accepted life-extending therapy for patients with endstage heart failure. However, with dramatic improvements in organ preservation, surgery and immunosuppressive drug management, short term survival is no longer the pivotal issue for most heart transplant recipients (HTR). Rather, a return to functional lifestyle with good quality of life is now the desired procedural outcome. To achieve this outcome, aggressive exercise rehabilitation is essential. HTR present unique exercise challenges. Preoperatively, most of these patients had chronic debilitating cardiac illness. Many HTR have had prolonged pretransplantation hospitalisation for inotropic support or a ventricular assist device. Decrements in peak oxygen consumption (VO2peak) and related cardiovascular parameters regress approximately 26% within the first 1 to 3 weeks of sustained bed rest. Consequently, extremely poor aerobic capacity and cardiac cachexia are not unusual occurrences in HTR who have required mechanical support or been confined to bed rest. Moreover, HTR must also contend with de novo exercise challenges conferred by chronic cardiac denervation and the multiple sequelae resulting from immunosuppression therapy. There is ample evidence that both endurance and resistance training are well tolerated in HTR. Moreover, there is growing clinical consensus that specific endurance and resistance training regimens in HTR can be efficacious adjunctive therapies in the prevention of immunosuppression-induced adverse effects and the reversal of pathophysiological consequences associated with cardiac denervation and antecedent heart failure. For example, some HTR who remain compliant during strenuous long term endurance training programmes achieve peak heart rate and VO2peak values late after transplantation that approach age-matched norms (up to approximately 95% of predicted). These benefits are not seen in HTR who do not participate in structured endurance exercise training. Rather, peak heart rate and VO2peak values in untrained HTR remain approximately 60 to 70% of predicted indefinitely. However, the mechanisms responsible for improved peak heart rate, VO2peak and total exercise time are not completely understood and require further investigation. Recent studies have also demonstrated that resistance exercise training may be an effective countermeasure for corticosteroid-induced osteoporosis and skeletal muscle myopathy. HTR who participate in specific resistance training programmes successfully restore bone mineral density (BMD) in both the axial and appendicular skeleton to pretransplantation levels, increase lean mass to levels greater than pretransplantation, and reduce body fat. In contrast, HTR who do not participate in resistance training lose approximately 15% BMD from the lumbar spine early in the postoperative period and experience further gradual reductions in BMD and muscle mass late after transplantation.
 ...
PMID:Exercise following heart transplantation. 1099 22

Simultaneous or temporarily staggered affection of both the skeletal as well as the cardiac muscle (cardiac involvement, CI) is a frequent finding in primary myopathies (MPs). CI leads to impulse generation defects, impulse conduction defects, thickened myocardium, left ventriculalr hypertrabeculation, dilatation of the cardiac cavities, secondary valve insufficiency, reduction of coronary vasodilative reserve, intracardial thrombus formation, and heart failure with systolic and diastolic dysfunction. CI has been found in Duchenne muscular dystrophy (MD), Becker MD, Emery-Dreifuss MD, facioscapulohumeral MD, sarcoglycanopathies, myotubular congenital MD, myotonic dystrophies type 1 and 2, proximal myotonic myopathy, myoadenylate deaminase deficiency, glycogenosis type II, III, IV, VII and IX, carnitine deficiency, mitochondriopathy, desmin MP, nemaline MP, central core disease, multicore MP, congenital fiber-type disproportion MP, Barth syndrome, McLeod syndrome and Bethlem MP. Patients with any of the above-mentioned myopathies should be cardiologically investigated as soon as their diagnosis is established, since sufficient cardiac therapy improves CI in MPs and since management of these patients is influenced by the degree of CI.
 ...
PMID:Cardiac involvement in primary myopathies. 1111 Nov 38

Ventricular pacing leads to a dilated myopathy in which cell death and myocyte hypertrophy predominate. Because angiotensin II (Ang II) stimulates myocyte growth and triggers apoptosis, we tested whether canine myocytes express the components of the renin-angiotensin system (RAS) and whether the local RAS is upregulated with heart failure. p53 modulates transcription of angiotensinogen (Aogen) and AT(1) receptors in myocytes, raising the possibility that enhanced p53 function in the decompensated heart potentiates Ang II synthesis and Ang II-mediated responses. Therefore, the presence of mRNA transcripts for Aogen, renin, angiotensin-converting enzyme, chymase, and AT(1) and AT(2) receptors was evaluated by reverse transcriptase-polymerase chain reaction in myocytes. Changes in the protein expression of these genes were then determined by Western blot in myocytes from control dogs and dogs affected by congestive heart failure. p53 binding to the promoter of Aogen and AT(1) receptor was also determined. Ang II in myocytes was measured by ELISA and by immunocytochemistry and confocal microscopy. Myocytes expressed mRNAs for all the constituents of RAS, and heart failure was characterized by increased p53 DNA binding to Aogen and AT(1). Additionally, protein levels of Aogen, renin, cathepsin D, angiotensin-converting enzyme, and AT(1) were markedly increased in paced myocytes. Conversely, chymase and AT(2) proteins were not altered. Ang II quantity and labeling of myocytes increased significantly with cardiac decompensation. In conclusion, dog myocytes synthesize Ang II, and activation of p53 function with ventricular pacing upregulates the myocyte RAS and the generation and secretion of Ang II. Ang II may promote myocyte growth and death, contributing to the development of heart failure.
 ...
PMID:Canine ventricular myocytes possess a renin-angiotensin system that is upregulated with heart failure. 1117 97

We have recently shown that mitochondrial function and energy metabolism are altered in the myocardium as well as in slow and fast locomotor muscles of rats subjected to prolonged congestive heart failure (CHF) suggesting a generalized metabolic myopathy in heart failure. Here, we investigate whether the diaphragm of CHF animals, which experiences both increased work and the general systemic influence of heart failure, will also be susceptible to altered energy metabolism. Biopsies were obtained from the costal diaphragm of failing rats 8 months after aortic banding. A marked increase in type I and type IIa myosin heavy chains at the expense of types IIx and IIb, suggests an adaptation towards a slower phenotype. Glycolytic enzymes decreased in CHF diaphragm with an increase in the H:M lactate dehydrogenase isoenzyme ratio. These results suggest a reorientation of the diaphragm muscle towards a slow, fatigue-resistant phenotype. However, maximal oxidative capacity assessed in saponin-permeabilized fibers in the presence of ADP was considerably reduced in CHF diaphragm (7.7+/-0.4 v 11.8+/-0.7 micromol O2/min/g dry weight in sham P<0.001), suggesting an alteration in oxidative phosphorylation. Furthermore, ADP sensitivity of CHF mitochondria was significantly increased (apparent Km for ADP 308+/-21 v 945+/-106 microM in sham P<0.001), whereas sensitivity to ADP in the presence of creatine was comparable (Km 79+/-12 v 90+/-11 microM in sham). In heart failure, therefore, the diaphragm muscle seems to adapt towards a more slow and economical contraction as a result of increased workload, but this adaptation is limited by the disease-induced altered mitochondrial function.
 ...
PMID:Dual influence of disease and increased load on diaphragm muscle in heart failure. 1127 23

Patients with restrictive cardiomyopathy (RC) have impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure. Primary RC is often sporadic, but also may be inherited in an autosomal dominant fashion, particularly the idiopathic forms. Recently there has been great interest in inherited cardiomyopathy associated with myocyte desmin deposition ('desminopathies'). In some such families, desmin or alpha-B crystallin gene mutation is the underlying cause, and the desmin accumulation affects skeletal muscle as well, usually causing skeletal myopathy. We describe a large family with apparent autosomal dominant inheritance of desmin-associated RC spanning four generations, with the age of onset and severity/rate of progression being highly variable. This family is relatively unique in that there is no symptom-based evidence of skeletal muscle involvement, and the known desminopathy and cardiomyopathy genes/loci have been ruled out. These data support literature suggesting that desmin deposition may be associated with different underlying gene defects, and that a novel desminopathy gene is responsible for the condition in this family.
 ...
PMID:Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. 1129 80

Desmin, the main intermediate filament (IF) protein in skeletal and heart muscle cells, is of great importance as a part of the cytoskeleton. The IFs surround and interlink myofibrils, and connect the peripheral myofibrils with the sarcolemma. In myotendinous junctions and neuromuscular junctions of skeletal muscle fibres, desmin is enriched. In the heart, desmin is increased at intercalated discs, the attachment between cardiomyocytes, and it is the main component in Purkinje fibres of the conduction system. Desmin is the first muscle-specific protein to appear during myogenesis. Nevertheless, lack of desmin, as shown from experiments with desmin knockout (K/O) mice, does not influence myogenesis or myofibrillogenesis. However, the desmin knock-out mice postnatally develop a cardiomyopathy and a muscle dystrophy in highly used skeletal muscles. In other skeletal muscles the organization of myofibrils is remarkably unaffected. Thus, the main consequence of the lack of desmin is that the muscle fibres become more susceptible to damage. The loss of membrane integrity leads to a dystrophic process, with degeneration and fibrosis. In the heart cardiac failure develops, whereas in affected skeletal muscles regenerative attempts are seen. In humans, accumulations of desmin have been a hallmark for presumptive desmin myopathies. Recent investigations have shown that some families with such a myopathy have a defect in the gene coding for alphaB-crystallin, whereas others have mutations in the desmin gene. Typical features of these patients are cardiac affections and muscle weakness. Thus, mutations in the desmin gene is pathogenic for a distinct type of muscle disorder.
 ...
PMID:Desmin-related myopathies in mice and man. 1141 47


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>