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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Severe congestive cardiac failure developed in a few weeks in a 44 year old man who had undergone porto-caval anastamosis for post-hepatitis cirrhosis one year previously and then treated for anaemia by repeated blood transfusion and chronic daily oral iron therapy. Infiltrative, congestive and restrictive cardiomyopathy was diagnosed in the presence of global cardiomegaly, electrocardiographic changes (microvoltage, diffuse ST-T wave changes), echocardiographic appearances (dilatation of the left ventricle, with hypertrophic and hypokinetic walls), and hemodynamic signs of adiastole with equalisation of filling pressures at 15 mmHg and a cardiac index of 1,88 l/min/m2. Cardiac haemochromatosis was confirmed by the laboratory (serum iron: 35 mumol/l; siderophilin saturation: 100 p. 100; serum ferritin: 1854 ng/ml; induced siderouria: 51 mg/24 hours) and histological findings (endomyocardial biopsy showing pigment overload). The absence of a family history, of homozygote A3 antigen, of diabetes, of iron overload on hepatic biopsy one year previously, excluded the diagnosis of familial idiopathic haemochromatosis. A secondary form of the disease was diagnosed on a possible genetic predisposition (heterozygote A3 antigen) and on environmental factors (blood transfusions, iron therapy, cirrhosis, alcoholism and perhaps the porto-caval anastamosis. Cardiac haemochromatosis was cured in this case by iron chelating therapy comprising daily subcutaneous infusions of 2 g of desferrioxamine for 2 months. The cure was confirmed by regression of the signs of clinical cardiac failure and of cardiomegaly, the increase in QRS voltages and the near normalisation of the hemodynamic and laboratory findings.
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PMID:[Adiastole caused by a secondary cardiac hemochromatosis. Successful treatment with an iron chelating agent]. 641 3

Up until recently in clinical practice suspected hemochromatosis with a pathological iron-screening test (plasma iron, percentage transferrin saturation, serum ferritin, desferrioxamine-induced urinary iron excretion) made a liver biopsy necessary. Today, as a first step, the density of the liver parenchyma can be measured by means of computed tomography. Normal findings obviate the need for laparoscopy. Since the late forties weekly or twice weekly phlebotomy has been the sole form of treatment for manifest idiopathic hemochromatosis. In the mid-sixties the hopes placed in chelating substances (desferrioxamine) were not fulfilled, because the plasma half-life (only 7-10 minutes) of this drug was too short. Even with several daily injections only a small amount of iron was removed from the body tissue (10-25 mg daily urinary iron excretion). The introduction of portable infusion pumps in the late seventies offered us a new possibility of administering desferrioxamine by subcutaneous injection (Propper et al., 1976). Until that time such treatment was successfully used only in the field of pediatrics to treat secondary transfusion hemochromatosis in thalassemia. In one case of idiopathic hemochromatosis with severe organic involvement (right heart failure, repeated esophageal hemorrhage and bronzed diabetes) we had to achieve rapid iron elimination, and for this purpose we used continuous long-term desferrioxamine administration by means of a portable infusion pump (Autosyringe) in addition to phlebotomy. Since, particularly in the critical initial phase of treatment when heart failure was always threatening, great care had to be exercised in the use of phlebotomy, iron removal was achieved largely by desferrioxamine administration (daily up to 240 mg iron elimination in urine and stools).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:New diagnostic and therapeutic possibilities in manifest idiopathic hemochromatosis. 651 41

The excessive storage of iron in idiopathic haemochromatosis leads to severe organic lesion up to life-threatening conditions (cardiac insufficiency, portal decompensation). The symptoms melanodermia , diabetes mellitus and other endocrine failures, liver cirrhosis, cardiac insufficiency and arthropathy appear together or in various combinations. The diagnosis is ascertained by the proof of iron storage, the multiple organic affection and by familial accumulation of the various laboratory diagnostic possibilities are particularly to be emphasized the serum iron value together with the percetal transferrin saturation (as search test), serum ferritin, the desferrioxamine test, simple ferrokinetic investigations and the quantitative determination of iron in the liver in the bioptate . For family examinations, apart from the search test, a HLA typisation is reasonable, in order to estimate the risk of the disease (particularly of brothers and sisters). The therapy of choice are blood- lettings (0.5 l once to twice a week) up to obtaining a permanent easy iron deficiency anaemia. The maintenance therapy should be performed with monthly to quarterly blood- lettings . Only in cases exception a desferal treatment is indicated. Endocrine failures and cardiac disturbances need a particular therapy.
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PMID:[Idiopathic hemochromatosis--diagnosis and therapy]. 673 May 91

We describe a 31 year old male patient who presented with severe cardiomyopathy caused by primary hemochromatosis. After a stormy course, complicated by heart failure and severe ventricular arrythmias, improvement in clinical status and myocardial function occurred. Depletion of myocardial iron was documented by the technique of serial endomyocardial biopsy. Myocardial iron stores were not yet depleted when hypoferremia and iron deficiency anemia occurred. This is the first reported study of myocardial morphology in a successfully treated patient with hemochromatotic cardiomyopathy.
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PMID:Myocardial involvement in idiopathic hemochromatosis. Morphologic and clinical improvement following venesection. 723 94

Although high blood transfusion regimens have improved the life expectancy of the patient with Thalassemia Major, cardiac failure and arrhythmias remain a cause of early death. It is not certain whether the massive myocardial iron deposition found in such patients is preventable by intensive chelation therapy. This study evaluates endomyocardial biopsy as a method of assessing myocardial iron deposition. Of four patients with clinical and biochemical evidence of severe haemochromatosis, only one had a myocardial iron content comparable to that found in severe haemochromatotic myocardium. The one patient with cardiac failure had an endomyocardial iron content within the normal range. Studies of the iron distribution in haemochromatotic myocardium demonstrate that the subendocardial myocardium contains only half the iron content of the subepicardial layer, and there is a large sampling variation. It is concluded that catheter endomyocardial biopsy is an insensitive method of determining early myocardial deposition because of the location of iron and the variability of the sampling. Studies of the nature of the myocardial iron protein with CM32 cation exchange resin chromatography show that there is a large increase in the haemosiderin: ferritin ratio (5:1) in iron overload myocardium as compared with the normal heart (2:1). Similar results have been observed in the liver with iron overload, where the increase in hepatic haemosiderin was associated with greater lysosomal fragility. It is possible that myocardial cell damage may also occur by the rupture of iron engorged lysosomes.
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PMID:Cardiac involvement in secondary haemochromatosis: a catheter biopsy study and analysis of myocardium. 726 Sep 65

33 patients with chronic renal failure were divided into two groups. Group I consisted of 8 non-dialysed patients without any clinical or biochemical sign of liver disturbance nor any iron supplementation. Group II consisted of 25 maintenance hemodialysis (MHD) patients treated from 2 to 13 years. 19 subjects had chronic B hepatitis. Total exogenous iron load parenteral iron and/or blood transfusions) was calculated. Body iron overload (hemosiderosis) was assessed by liver iron concentration (LIC) in needle biopsy specimens according to Barry's method (less than 200 microgram/100 mg dry weight) and serum ferritin levels (less than 360 ng/ml). 4 patients whose serum ferritin was increased with or without hepatic fibrosis and with or without any organ dysfunction due to hemochromatosis received i.v. infusions of desferrioxamine in doses of 2 g at each dialysis. Serum ferritin levels were correlated with LIC (p less than 0.001) and iron load (p less than 0.001). Hemosiderosis was noted in 16 MHD patients (group II) and correlated with iron load. Hemochromatosis was noted in 4 patients (group II). 4 hemodialysed patients with iron overload were treated by desferrioxamine from 6 to 18 months. During this therapy, body iron stores fell and organ dysfunction (heart failure, hepatic cytolysis, anaemia, diabetes mellitus improved. Long-term chelation therapy by desferrioxamine was effective and the chelated iron was readily removed by dialysis. These data show the importance of precise evaluation of iron stores in MHD patients.
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PMID:[Iron-overload in patients on maintenance hemodialysis: diagnostic criteria, indications and treatment by desferrioxamine (author's transl)]. 732 1

Secondary heart failure induced by organ siderosis is the main cause of death in patients affected by thalassemia major. At present it cannot be predicted whether heart siderosis is correlated with iron overload and little is known about the real cardiac histological pattern of post transfusional hemochromatosis in patients with thalassemia major and intermedia. The study aim was to evaluate cardiac iron overload by non invasive and invasive techniques. Fifteen thalassemic patients were investigated and endomyocardial biopsy performed in ten revealed different grades of endomyocardial iron overload with histochemical positivity. Non invasive techniques are not able to furnish an exact picture of the cardiac hemochromatosis. There was a significant correlation between serum ferritin and myocardial iron grade. Patients with elevated ferritin levels and poor compliance to chelating therapy are at high risk of severe heart hemochromatosis. It was seen that endomyocardial biopsy is a useful tool in studying myocardial iron.
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PMID:Cardiac iron overload in thalassemic patients: an endomyocardial biopsy study. 754 32

Heart failure and hypogonadotropic hypogonadism are the most frequent clinical problems encountered in patients with juvenile idiopathic hemochromatosis (JIH). In this context, amenorrhea is one of the first symptoms in female patients, and hormone therapy must be added to phlebotomy to restore menstrual cycles. Here we report the case of a woman in childbearing age with hypogonadotropic hypogonadism due to JIH. Following therapy with gonadotropinic hormones the patient had a twin pregnancy with term delivery. The newborns presented a normal iron status. This confirms that early diagnosis and treatment of JIH are important to prevent irreversible organ damage and shows that the female reproductive function can be preserved in adequately treated patients.
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PMID:Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism. 759 May 3

Idiopathic hemochromatosis, the most frequent inherited disease in Caucasians, is frequently undiagnosed. In this disorder, characterized by a continued inappropriated absorption of dietary iron, the clinical manifestations result from damage to those organ systems in which iron has been pathologically deposited, namely, the heart and the liver. Typically, hemochromatosis becomes clinically manifest in later life and in men more frequently than in women. This has been attributed to the extra loss of iron in women through menstruation and pregnancies. Removal of the excess iron by phlebotomy will prevent all of the complications of hemochromatosis of when begun early. In this paper, we report a case of a young woman with a eight years evolution of amenorrhea, cardiac failure, diabetes mellitus and increased pigmentation of the skin, associated with biochemical markers of iron overload. It is emphasized that hemochromatosis most be excluded in all patients with a unexplained cardiac failure.
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PMID:[Refractory heart failure in a 26-year-old woman with idiopathic hemochromatosis]. 783 64

Haemochromatosis is an inherited disorder of iron metabolism characterized by a general iron over loading. Without diagnosis and early treatment, it is a serous and potentially fatal disease by cardiac failure or hepatocellular carcinoma in particular. Gene prevalence was estimated at 0.06 in Brittany, so that haemochromatosis may be the most common genetic disease in this area. The biochemical defect of the disease is unknown; only one fact is well established: the iron absorption through duodenal mucosa is excessive. However, we don't know if it is a primary event. The gene is also unknown but in 1975 it was located on the short arm of chromosome 6, closely linked to the HLA class I region, less than 1 cM from HLA-A. None of the genes coding for the known iron proteins could be the haemochromatosis gene because of their chromosomal localization. In order to locate this gene with precision, we have used a reverse genetic approach now called positional cloning. Characterization of new polymorphic markers and linkage disequilibrium analysis have led us to locate the gene within a 350 kb region around HLA-A. We have then searched for all the structural genes in this region. Seven new genes have been so identified and located with precision. A structural analysis of these genes was undertaken to find an eventual abnormality in patients.
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PMID:[Molecular genetics of hemochromatosis]. 811 56


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