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)

In this case report, the patient had been delivered by Caesarean section and weighed only 4 pounds at birth. The mother was O negative, the father A positive, and the infant A positive. Initial red cell count was 2.85 million/cu mm; white cell count, 19,200/cu mm; and hemoglobin 70% of normal. At 3 months of age hemoglobin was 10% of normal. Bone marrow examination revealed marked erythroid hyperplasia. A diagnosis of Blackfan-Diamond syndrome was made. He received blood transfusions every 2 or 3 weeks for the first 4 years of his life. During his lifetime he received 433 units of packed cells for the treatment of congenital hypoplastic anemia. Vitamin-B12, folic acid, and iron were given without benefit. At 8 years of age a spelectomy was done. 20 months after surgery he recovered from pneumonococcal meningitis without sequelae. Progressive signs of hemochromatosis developed and finally progressive signs of heart failure with edema. At 24 years of age severe epigastric pain developed. An open liver biopsy disclosed multiple liver nodules which proved to be hepatoma. Severe ascites followed the surgery. Pulmonary metastases of the liver tumor developed and heart failure. He died at age 25. This patient had received no androgen. He was consistently hepatitis antigen negative. He was prepubertal at the age of 25 and had almost no endogenous androgens. Alpha-fetoglobin was present. This test may be useful as a screening test for hepatoma.
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PMID:Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). 18 Aug 2

In a female 53 year old patient with severe heart failure in haemochromatosis, not responding to digitalis, treatment with prednisolone (40 mg/da) and phlebotomies eventually led to a permanent remission. She is symptom free 4 years after the event. Phlebotomy every 4--6 weeks is the only actual treatment.
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PMID:[Successful treatment of cardiac failure in haemochromatosis by prednisolone and phlebotomies (author's transl)]. 53 47

A 25-year-old man with familial pyruvate kinase (PK) deficiency who have been given only 6 transfusions during his lifetime died of cardiac failure from hemochromatosis (HC). This previously unreported association of PK and HC deficiency does not appear to be fortuitous but to be related to possible early hemolysis and intramedullary destruction, features of ineffective erythropoiesis. The role of splenectomy in the progression of the HC could, as in some thalassemias, be an unfavourable factor. Serum iron levels should therefore be measured during the course of AHPK.
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PMID:[Hemochromatosis and puryvate kinase deficiency (author's transl)]. 53 87

A case of idiopathic haemochromatosis in a young adult aged 23, with pre-eminent cardiac symptoms is described. The cardiac symptoms consisted of heart failure and various types of arrhythmias (atrial and ventricular tachycardia, AV block). The haemodynamic studies revealed a biventricular diastolic hypertension; the cineangiocardiography showed a diffuse hypokinesis of the left ventricle and mitral regurgitation.
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PMID:[Hemochromatosic cardiomyopathy. Report of a case with registration of his bundle potentials and hemodynamic examination (author's transl)]. 125 22

In a retrospective analysis we assessed the data of 46 patients with myelodysplastic syndromes (MDS), who had received more than 50 blood transfusions during the course of disease. The number of units given ranged from 50 to 155 (mean 79). 20 patients (RA n = 4, RARS n = 12, RAEB n = 1, RAEB/T n = 2, CMML n = 1), followed up between 8 and 108 months (mean survival time 39.4 months), developed a secondary hemochromatosis. More than 40% of the patients showed signs of heart failure, in some cases accompanied by cardiac arrhythmias. 11 patients also suffered from hepatopathy and 5 developed diabetes mellitus. Secondary hemochromatosis was particularly common in patients with RARS. Refractory congestive heart failure secondary to hemochromatosis was the cause of death in 14 patients, whereas none died from hepatic insufficiency. We conclude that the risk of secondary hemochromatosis should not be neglected in polytransfused patients with MDS. In some cases, particularly those with favorable prognostic features of MDS, it may shorten life expectancy. The availability of a new oral iron chelator (1,2-dimethyl-3-hydroxypyrid-4-one or L1) offers a promising and practicable approach to prevent this complication.
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PMID:[Secondary hemochromatosis in polytransfused patients with myelodysplastic syndromes]. 128 62

Two hundred twelve Italian patients with genetic hemochromatosis (181 men, mean age 50 +/- 11 yr; and 31 women, mean age 49 +/- 10 yr) were followed for a median period of 44 mo (range = 3 to 218 mo). Alcohol abuse was present in 31 subjects (15%), and chronic HBV and HCV infection were seen in 19 (9%) and 35 (24%) of 145 cases tested, respectively. Twenty-four patients (11%) had concomitant beta-thalassemia trait. Liver biopsy revealed cirrhosis in 146 and a noncirrhotic pattern in the other 66. Perls' stain was degree III in 37 patients and IV in 171 patients. One hundred eighty-five patients underwent weekly venesection, and iron depletion was achieved in 122 cases after total iron removal of 3 to 41 gm. Death occurred in 44 patients after 3 to 198 mo and was due to hepatocellular carcinoma in 20 cases, liver failure in 10, extrahepatic cancer in six, heart failure in three and hemochromatosis unrelated causes in five. Cancer has developed in seven other patients still alive (hepatocellular in five and extrahepatic in two). No deaths were observed among noncirrhotic patients; cumulative survival rates in cirrhotic patients were 85%, 75%, 60% and 47% at 3, 5, 8 and 10 yr, respectively. Univariate analysis in the 146 cirrhotic patients showed that age greater than 60 yr, alcohol abuse, cardiomyopathy, skin pigmentation, portal hypertension, hypoalbuminemia, hypergammaglobulinemia and Child class B or C had significant negative prognostic value. At multivariate analysis, only alcohol abuse, gamma-globulins greater than 2.0 gm/dl and Child class B or C maintained their negative prognostic values (p less than 0.01, hazard ratio 2.7; p less than 0.001, hazard ratio 2.8; and p less than 0.001, hazard ratio 4.3, respectively).
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PMID:Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. 131 85

Deferoxamine is still today the only preventive and curative treatment of transfusional hemochromatosis. It must be perfused daily, intravenously or subcutaneously, during several hours. Implantable infusion devices (Port-A-Cath) offer intravenous access, allowing to use higher doses, while avoiding local swelling due to subcutaneous injections. This device was inserted in 7 major thalassemic patients who presented with severe complications of iron overload, including 4 of them with signs of cardiac failure. Ferritinemias of all patients were lowered after intensifying iron chelation: cardiac function improved drastically in 2 patients. Devices were responsible for some complications: occlusion in one patient, local infections in two. This way of administration of desferal seems useful in patients with high ferritinemia and/or organic complications related to hemochromatosis.
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PMID:[Intensifying iron chelating therapy with desferrioxamine using implantable venous access catheters (Port-A-Cath)]. 161 Feb 70

During the period 1950-1985, a total of 179 cases of clinically overt hereditary haemochromatosis (HH) were registered in Denmark, 140 males and 39 females. Median age at diagnosis was 55 years (range 29-81). Diagnostic approaches, symptoms and physical signs at discovery are described. All patients had grade 3-4 liver haemosiderin iron, and cirrhosis was present in 84%. Serum (S-) transaminase was elevated in 92%, S-alkaline phosphatase in 47% and S-bilirubin in 23%, while plasma prothrombin time was below normal in 34%. Females had higher alkaline phosphatase than males (p less than 0.05). Bone marrow haemosiderin iron (n = 81) showed no relation to iron status indicators and was unsuitable as a diagnostic tool. Skin biopsy (n = 56) was positive for haemosiderin iron in 67% and for melanin in 57%, but was of limited value in the assessment of HH. Arthropathy was registered in 44%; arthralgias and clinical joint abnormalities occurred more frequently in females than in males (p less than 0.05). Latent diabetes mellitus was found in 34% and overt diabetes in 55%, being more frequent in males than in females (p less than 0.05). Other endocrine abnormalities were seen in 66%. Cardiac failure was observed in 9% and abnormal ECG in 35%. Males had higher haemoglobin (p less than 0.0001) and S-iron (p less than 0.01) than females, while S-transferrin, transferrin saturation, S-ferritin and mobilizable iron stores showed no significant sex differences. Median transferrin saturation was 87% (range 52-100); values greater than 62% were observed in 96% of the patients. Median S-ferritin was 3,400 micrograms/l (800-12,700) and median iron stores 14.8 g (4.5-36.4).
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PMID:Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. 191 39

Endomyocardial biopsy (EMB) is a valuable diagnostic procedure for rejection surveillance in heart allograft recipients and is widely used for evaluation of native heart disease. However, the spectrum and incidence of diagnoses encountered on a heart failure/cardiac transplant service deserve clarification. Of 2300 consecutive EMBs performed during a 2.5-yr period, 79.9% had been performed for rejection surveillance in heart allograft recipients. Of these, 1281 (69.7%) were negative for rejection; 536 (29.1%) were positive (18.9% mild, 9.7% moderate, 0.5% severe); 21 (1.1%) were not interpretable due to insufficient samples. Endocardial lymphocytic infiltrates ("Quilty" effect) were present in 86 (4.7%), ischemia in 12 (0.7%), myocardial calcification in five (0.3%), foreign body giant cells in two (0.1%), valvular tissue in two (0.1%), and liver tissue in one (0.05%). Of the 20.1% of EMBs performed in patients with native heart disease, 298 (64.5%) were abnormal. A total of 239 (51.7%) had myocyte hypertrophy and/or fibrosis, while 37 (8.0%) had active or ongoing myocarditis, two of which were of the giant cell type. Other diagnoses included anthracycline cardiotoxicity in 11 (2.4%), amyloidosis in five (1.1%), hemochromatosis in two (0.4%), healed infarct in two (0.4%), scleroderma in one (0.2%), and foreign body granuloma in one (0.2%). A total of 159 (34.4%) samples had no diagnostic abnormalities; five (1.1%) were insufficient samples. As the number of EMBs performed grows, pathologists must develop expertise in the detection of morphological features pertaining to various cardiac conditions which may have similar clinical presentations.
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PMID:Pathological findings in 2300 consecutive endomyocardial biopsies. 192 75

The evolutive patterns, actuarial survival and causes of death of idiopathic myelofibrosis were analysed in a series of 60 patients. The median age of the patients was 64 years; 41 were males and 19 females. In the initial bone-marrow biopsy studies 25 patients were in stage MF/C, 17 in MF/O- and 18 in MF/O+. When performing this analysis, 32 patients were dead, 19 were still alive and 9 had been lost after a median follow-up of 6 months. The median survival of the whole series was 57 months. Four major evolutive patterns were recorded: 1) blastic crisis (7 cases), 2) portal vein hypertension (4 cases), 3) liver insufficiency due to massive myeloid metaplasia of the liver without signs of portal vein hypertension (5 cases); in 2 of them this pattern followed splenectomy), and 4) heart failure ascribable, at least partially, to post-transfusion haemochromatosis (3 cases). The blastic crisis appearing in 7 patients presented after a median follow-up of 19 months, and 6 of these patients have died after a median of 5 months since the diagnosis of the blastic crisis. In the 16 patients who died without any characteristic evolutive pattern, the following causes of death could be registered: septic shock (6 cases), intracranial haemorrhage, haemoperitoneum and acute renal failure (1 case each), whereas the cause of the deceased was unclear in the remaining 7 patients.
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PMID:[Idiopathic myelofibrosis: clinical course, survival, and causes of death in a series of 60 patients]. 219 99


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