Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Echocardiography was used to evaluate the heart in 19 patients with one of various systemic diseases known to be associated with infiltrative cardiomyopathy. Four patients had systemic amyloidosis, 10 had idiopathic hypereosinophilia and 5 had iron overload caused by multiple blood transfusions. Although 10 patients (53 percent) had no clinical evidence of cardiac disease, all 19 had echocardiographic abnormalities; the left ventricle was symmetrically thickened (more than 11 mm) and left ventricular mass was increased (more than 275 g) in all; the left ventricular transverse dimension was modestly increased (more than 52 mm) in 5 patients (26 percent) and the velocity of mitral valve closure in early diastole was reduced (less that 60 mm/sec) in 5 patients. Systolic function, as evidenced by ejection fraction, was well maintained (greater than 60 percent) in 18 of 19 patients. Thus, it appears that echocardiographic abnormalities can be detected in many patients with a systemic disease associated with infiltrative cardiomyopathy even before clinically evident heart disease develops.
 ...
PMID:Echocardiographic observations in patients with systemic infiltrative disease involving the heart. 13 57

Over the last few years the study of idiopathic haemochromatosis has not brought to light any basic change in the overall pattern of organic and metabolic damage produced by the disease and comprising altered skin pigmentation, liver disease, diabete mellitus, heart disease, endocrine dysfunction, bone and joint disease. Nevertheless, certain facets of the clinical picture have been described and progress has been made in understanding the signs of the disease. Although the desferrioxamine test is no without merit, especially if performed after vitamin C administration, for measuring the extent of iron overload, two methods seem better equipped: serum ferritin radioimmunoassay and measurement of iron concentration in a liver biopsy specimen. The HLA antigen A3 and, more especially, haplotype A3, B14, are markers for the genetic basis of the disease. Repeated phlebotomy therapy generally brings about symptomatic improvement and a significant increase in survival.
 ...
PMID:[Idiopathic haemochromatosis. I. Clinical, biological and therapeutic aspects (author's transl)]. 37 16

Thirty-six consecutive patients with idiopathic haemochromatosis (IH) were studied by electrocardiography (ECG), polygraphy, M-mode and 2-D echocardiography and Doppler-echocardiography. No significant correlations were found between ECG, PEP/LVET ratio and echocardiographic measurements. Left ventricular (LV) enlargement with impaired LV systolic function was present only in three patients (5.5%), of whom two died during iron-depleting therapy because of cardiovascular complications. Compared with controls, echocardiographic abnormalities were significantly more frequent and marked in subjects with higher iron overload than in those in whom it was lower. Ten patients were studied before and after iron depletion, nine of whom had only mild echocardiographic abnormalities at baseline examination. Significant reduction of end-diastolic thickness of the interventricular septum and LV mass (P less than 0.01 and less than 0.02 respectively) was observed. Also the end-diastolic thickness of the LV posterior wall and the end-systolic diameter of the left atrium reduced although not to a significant degree. The increased thickness of ventricular walls without impairment of LV systolic function is probably the first and still reversible cardiac alteration due to iron deposition in the myocardium. Later, with increasing iron overload, LV function becomes impaired and dilated cardiomyopathy develops. Early diagnosis and treatment of IH cardiopathy is needed before irreversible cardiac damage occurs.
 ...
PMID:Cardiac alterations in 36 consecutive patients with idiopathic haemochromatosis: polygraphic and echocardiographic evaluation. 204 57

To characterize cardiac involvement in idiopathic hemochromatosis, clinical records and 2-dimensional (2-D) echocardiograms of 24 patients with idiopathic hemochromatosis were reviewed. The 17 men and 7 women were 24 to 80 years old (mean 48). Of 19 patients without valvular, ischemic, hypertensive or other known heart disease, 7 (37%) had structural and functional echocardiographic abnormalities attributed to idiopathic hemochromatosis (group 1) and 12 had normal echocardiographic findings (group 2). Age, gender and laboratory markers of iron overload did not differentiate patients with cardiac dysfunction (group 1) from those without cardiac dysfunction (group 2). In group 1, echocardiographic abnormalities included chamber dilatation and global systolic dysfunction. Increased wall thickness was not a feature of idiopathic hemochromatosis. All group 1 patients had abnormal electrocardiographic findings and cardiomegaly on radiography. Despite therapeutic phlebotomy, 4 patients in this group died, between 0.5 and 30 months after echocardiography, because of congestive heart failure. In conclusion, there is a spectrum of cardiac dysfunction in idiopathic hemochromatosis. In patients with idiopathic hemochromatosis and left ventricular dysfunction, absolute wall thickness is normal. Survival is poor in patients with idiopathic hemochromatosis and severe left ventricular dysfunction.
 ...
PMID:Echocardiographic features of idiopathic hemochromatosis. 295 41

Iron overload is a major complication of long-term transfusion therapy. In the absence of treatment, the excessive iron causes diffuse organ damage, usually culminating in death from heart disease. Deferoxamine, an iron-chelating drug, removes tissue iron, prevents iron-induced organ dysfunction, and prolongs life. Proper administration of deferoxamine requires careful attention to dose, route and duration of administration, and compliance. Better chelators are needed but are unlikely to be available soon. Other methods for preventing or reducing iron accumulation involve alterations in the transfusion program or the blood product. Prevention of iron overload should improve the lives of patients with transfusion-dependent anemias and extend the usefulness of transfusion in chronic hematologic disorders.
 ...
PMID:Management of iron overload in the pediatric patient. 332 85

Experience over the last 20 years with 34 patients with idiopathic hemochromatosis is summarized and the literature is reviewed. Methods are now available which are highly effective in the diagnosis of iron overload and virtually all diagnoses are made antemortem. The nature of the disease has changed through the removal of iron by phlebotomy. Early deaths are limited to patients with severe and rapidly progressive heart disease and to those presenting with neoplasm. The major mortality has shifted to a much later period and the incidence of hepatoma is increasing. There is particular interest at the present time in family studies since excessive iron stores are frequently found within the family. The significance of intermediate degrees of iron overload is unclear, but future attention should be given to the recognition of iron overload long before clinical manifestations appear.
 ...
PMID:Idiopathic hemochromatosis, an interim report. 698 8

The efficacy and toxicity aspects of the iron and aluminium chelating drugs desferrioxamine and deferiprone (L1, 1,2-dimethyl-3-hydroxypyrid-4-one), have been compared. Major emphasis was given in the use of these two and also of other chelators in conditions of iron overload, imbalance and toxicity, as well as the incidence and possible causes of toxic side effects in both animals and humans. The chemical basis of chelation and the interaction of these chelators with the iron pools are discussed within the context of clinical application in iron overload and other conditions such as renal dialysis, rheumatoid arthritis, cancer, heart disease, malaria, etc. The design and development of new orally active alpha-ketohydroxypyridine and other chelators are considered and compared with 14 other chelators which have been previously tested in man for the removal of iron, most of which, however, were later abandoned because of low efficacy or major toxicity. The design of new therapeutic protocols based on the pharmacological, toxicological and metabolic transformation properties of the chelating drugs is also being considered, within the context of maximising their efficacy and minimising their toxicity. Overall, oral deferiprone appears to be as effective as s.c. desferrioxamine in the removal of iron and aluminium in man and to have a similar but different toxicity profile from desferrioxamine in both animals and man. The low cost and oral activity of deferiprone will make it the drug of choice for the vast majority of patients, who are not currently being chelated either because they cannot afford the high cost of desferrioxamine therapy or are not complying or have toxic side effects with its s.c. administration.
 ...
PMID:Comparative efficacy and toxicity of desferrioxamine, deferiprone and other iron and aluminium chelating drugs. 748 75

This paper presents a review of the significant body of literature liking dietary iron overload, not only to heart disease, but also to cancer, diabetes, osteoporosis, arthritis, and possibly other disorders. Following an analysis of our understanding of the mechanistic role iron plays in oxidative damage, an interpretation of the fact that plasma concentrations of several antioxidants are decreased in the presence of disease is offered. Evaluation of (1) age-related dietary trends over time and (2) factors involved in iron absorption leads to the hypothesis that the combination of citric acid and ascorbic acid (a synergistic pair of strong enhancers) is instrumental in causing a deleterious increase in iron load in aging populations. Iron overload may be the most important common etiologic factor in the development of the diseases mentioned; therefore, the synergistic combination of citric and ascorbic acids may play a major role in our worsening disease statistics. Evidence to support this hypothesis and possible experiments to test it are included. This combination needs further study, particularly because the iron overload produced may be correctable.
 ...
PMID:Proposed role for a combination of citric acid and ascorbic acid in the production of dietary iron overload: a fundamental cause of disease. 755 10

Transfusional iron overload leading to cardiopathy and other severe complications continues to be a major problem in chronically transfused homozygous beta-thalassaemia patients. It is well known that young red cells (neocytes) survive longer after transfusion and therefore may contribute to the extension of the intervals between transfusions. We evaluated the impact of neocytes in the total annual blood requirements and consequently the transfusional iron load in 18 thalassaemia patients. A two-period study comparing transfusions of standard red cells versus neocytes in the same group of patients was performed. Neocytes were harvested by density separation using the Neocel System. The method of preparation was simple with relatively low costs and required no special equipment. There was a significant difference (p < 0.005) in PK and MCV values of the neocyte and older red cell (gerocyte) fractions indicating that a good separation of the two populations was achieved. All patients had a reduction in blood requirements during the neocyte period. The total annually transfused red blood cells and concomitant iron blood load were significantly reduced (p < 0.001) by 20.2 +/- 9.1%. However, the response was variable. Seven of the 18 patients had a large reduction in blood consumption (24.8-34.8%), 9 others ranged between 10.7 and 21.6%, and in 2 the reduction was less than 10%. This reduction in blood requirements and in the transfused iron may change the chelation index resulting in more efficient iron chelation therapy and perhaps reduce the cost of the haemochromatosis therapy on a long-term basis. We conclude that the use of neocyte therapy using this system can benefit the majority of chronically transfused patients by reducing transfusional iron overload and related complications and may lead to a much better quality of life.
 ...
PMID:The impact of neocyte transfusion in the management of thalassaemia. 912 27

Iron overload is the main cause of morbidity and mortality in patients with thalassaemia major. In order to establish if the presence of the mutations recently described in the haemochromatosis gene affects the severity of iron overload in thalassaemia patients, we compared the prevalence of mutations C282Y and H63D in 216 young adults regularly transfused and chelated in North-Eastern Italy with the frequency found in a group of blood donors from the same area. For each patient, mean serum ferritin over the last 3 years, liver iron concentration, and the presence of diabetes, hypogonadism and heart disease, were considered. The frequency of the C282Y allele was 1.9% in patients with thalassaemia major and 2.3% in blood donors (P=ns). The frequency of the H63D allele was 16.2% in patients with thalassaemia major and 15.3% in blood donors (P=ns). When age, liver iron concentration and mean yearly serum ferritin levels were compared in patients with and without mutations C282Y and H63D, no significant differences were found. Also, the prevalence of iron-induced complications was not significantly different between patients carrying or not carrying the mutations. The presence of the HH mutations does not seem to influence the degree of iron overload and its consequences in regularly transfused and chelated patients with thalassaemia major.
 ...
PMID:The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated. 985 37


1 2 3 4 5 Next >>