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)

Iron depletion was suggested to be protective against the development of ischemic heart disease. Population studies have led to conflicting results, and such an association has not been addressed in patients with heart failure due to cardiomyopathy. We studied the distribution of hemochromatosis-related mutations in 319 patients with heart failure due to cardiomyopathy of different etiologies. The genotypic distribution showed a significantly higher prevalence of heterozygotes for the C282Y mutation in patients with ischemic cardiomyopathy than in patients with cardiomyopathy of nonischemic etiologies (p = 0.0036). The frequency of the D63 mutation was not significantly different between ischemic versus nonischemic groups. In multiple logistic regression models adjusted for age, sex, ethnicity, and different degrees of disease progression, there was a strong and significant association of the C282Y mutation with ischemic cardiomyopathy compared with the nonischemic group (odds ratio 6.64, 95% confidence interval 1.71 to 25.73, after adjustment). In our sample, genetic variation in the HFE gene was associated with ischemic cardiomyopathy. Such association merits further study regarding its value as a prognostic marker in patients with ischemic heart disease.
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PMID:Hemochromatosis gene variants in patients with cardiomyopathy. 1154 59

Hemochromatosis is a genetic disease of iron overload due to intestinal hyperabsorption of iron. It is one of the most prevalent autosomal recessive diseases in Caucasian populations. Hemochromatosis causes severe visceral and metabolic complications at adulthood, which include cirrhosis, diabetes, arthropathy and cardiac failure. A major breakthrough has been the discovery, in 1996, of the HFE gene which is strongly associated with the phenotypic expression of the disease. This discovery has, very quickly, provided a powerful genetic blood test which permits, in most cases, to establish the diagnosis in a non invasive way (i.e. without a liver biopsy). Hemochromatosis can be cured by repeated venesections provided the diagnosis has been detected sufficiently early. Moreover, an efficient preventive strategy can be applied to family members and should now be proposed to the general population. Finally, the identification of the HFE gene has paved the way for the identification of new iron overload entities.
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PMID:Hemochromatosis at the intersection of classical medicine and molecular biology. 1155 26

A 30-year-old Japanese woman weighing 35 kg with severe hemochromatosis due to multiple transfusions was referred to our clinic for treatment of severe aplastic anemia (SAA). The patient had heart failure with an ejection fraction of 36% requiring diuretics and a severe liver dysfunction with an indocyanine green clearance rate of 18%, as well as other transfusion-related complications such as chronic hepatitis due to hepatitis C virus and diabetes mellitus. She was treated with a non-myeloablative preparative regimen that included fludarabine monophosphate (Flu, 120 mg/m(2)), cyclophosphamide (CY, 1200 mg/m(2)) and antithymocyte globulin (ATG, 15 mg/kg) followed by allogeneic peripheral blood stem cell transplantation (PBSCT) from her HLA-matched sister. The regimen was well tolerated, and engraftment rapidly occurred without any therapy-related complications. Chimerism analysis on day 14 after transplant showed reconstitution with 100% donor cells. She no longer needed transfusion after day 23 and has been well in 90% Karnofsky status at 4 months post transplant. The clinical course of this patient indicates that this preparative regimen enables SAA patients with severe organ failure to safely undergo allogeneic stem cell transplantation.
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PMID:Successful non-myeloablative stem cell transplantation for a heavily transfused woman with severe aplastic anemia complicated by heart failure. 1178 31

Juvenile hemochromatosis (JH) is a characteristic form of genetic hemochromatosis with an early onset and severe clinical course leading to death if iron depletion treatment is not timely applied. Clinical complications include liver cirrhosis, heart failure, hypogonadotropic hypogonadism, and diabetes. In the present study we report the first case of JH described in Spain. Biochemical and genetic characteristics of the patient and relatives (parents and siblings) were investigated. No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR2 gene, associated with other types of hemochromatosis. Nevertheless, some individuals were homozygous for the mutation at position 187 of HFE. The hypothetic region of association with JH, located at chromosome 1q, was also investigated and results show that the patient presented a unique genotypic combination in 1q. The only brother with heavy iron deposits in hepatocytes was found to be heterozygous for the JH-associated region and homozygous for the HFE187 gene, suggesting a synergistic effect between both hemochromatosis-associated genes.
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PMID:Juvenile hemochromatosis in a Spanish family. 1248 7

We report a 64 years old male, admitted for dyspnea and edema of two weeks duration. A sideroblastic anemia, requiring multiple transfusions, was diagnosed four years earlier. The chest X-ray showed an enlarged heart and right pleural effusion. A low left ejection fraction was evidenced by echocardiogram. Doppler analysis of the mitral flow revealed a restrictive hemodynamic pattern. A diagnosis of secondary cardiac hemochromatosis deposit was made. Nine days after admission the patient died due to heart failure. The clinical presentation of cardiac hemochromatosis as a sudden and irreversible heart failure, as well as the importance of early diagnosis and surveillance of high-risk patients is emphasized.
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PMID:[Irreversible acute heart failure caused by cardiac hemochromatosis secondary to multiple transfusions]. 1209 Jan 9

Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to severe iron overload earlier in life than HFE-related hemochromatosis. Increased transferrin saturation and serum ferritin as well as parenchymal iron deposition and liver fibrosis may be observed in childhood. Clinical symptoms of hypogonadism and cardiac disease develop before the age of 30. The disease is usually progressive and if untreated may become fatal because of heart failure. The type 2 hemochromatosis locus maps to chromosome 1q21, but the gene has not yet been isolated. The severity and the early expression of juvenile hemochromatosis suggest that the gene product has a crucial role in the regulation of iron homeostasis.
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PMID:Juvenile hemochromatosis. 1238 99

Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron-binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies.
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PMID:Genetic haemochromatosis. 1242 71

Although non-myeloablative stem cell transplantation(NST) was originally developed to induce graft-versus-malignancy effect, the new transplant modality is now being applied for treatment of non-malignant disorders such as aplastic anemia(AA) and paroxysmal nocturnal hemoglobinuria due to its low toxicities. NST may be preferable than conventional transplantation when an AA patient has complications due to hemochromatosis such as heart failure and diabetes mellitus, and severe infections. We treated three aplastic anemia patients complicated by various organ failures, with a conditioning regimen consisting of fludarabine (Flu), cyclophosphamide(CY), and antithymocyte globulin (ATG). Engraftment promptly occurred in all patients without accompanying severe graft-versus-host disease or organ damages. Successful induction of complete chimerism and a low incidence of toxicities warrant a further clinical trial using the Flu + CY + ATG regimen.
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PMID:[Non-myeloablative stem cell transplantation for non-malignant hematologic disorders]. 1451 30

EPIDEMIOLOGY ADN PHYSIOPATHOLOGY: Hereditary haemochromatosis is the most common genetic disease in France. Its frequency is on average 1 out of 300 French individuals. It is due to excessive dietary iron absorption, leading to accumulation of iron in the body. Mutations of the HFE1 gene are responsible for the majority of the case of haemochromatosis. FROM A CLINICAL POINT OF VIEW: The first clinical manifestations (weakness, sexual dysfunction, arthralgia, cardiac symptoms, dyspnoea on effort) can occur after the age of 30 years in men and 35 years in women (protected for longer by menstruation, pregnancy and delivery). In the absence of diagnosis, severe complications can develop during the 5th decade: nervous breakdown, arthropathy, heart failure, diabetes mellitus, cirrhosis with risk of progression towards carcinoma, responsible for handicaps and premature death. DIAGNOSTIC ELEMENTS: The diagnosis is evoked in the case of an increase in transferrine saturation (>45%), associated or not with excessive ferritin plasma levels. It is confirmed by the genetic test, showing homozygotes for the C282Y mutation or compound heterozygotes for the C282Y and H63D mutations on the HFE1 gene. RMI quantifies hepatic iron loading and generally avoids the need for a liver biopsy. The differential diagnosis must exclude secondary iron overload due to chronic transfusions in congenital or acquired blood diseases, a polymetabolic syndrome, chronic viral or alcoholic hepatic diseases and porphyria cutanea tarda. EFFICIENT TREATMENT: Today, haemochromatosis is still treated by phlebotomy. This consists in withdrawing 400 to 500ml of blood every week at the initial depletion stage and subsequently a maintenance therapy in order to maintain ferritin levels below 50 ng/ml. Paradoxically and through ignorance, hereditary haemochromatosis remains a serious disease, although its diagnosis is easy and the treatment simple and effective.
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PMID:[Hereditary haemochromatosis]. 1579 37

The case of a 43-year-old male is presented, with diagnosed diabetes mellitus,heart failure, skin pigmentation, hepatic cirhosis, and hereditary hemochromatosis confirmed by liver biopsy. The objective of this publication is to have hemochromatosis in mind as a differential diagnosis in a middle-aged patient with several pathologies and organs involved.
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PMID:[Hereditary hemochromatosis]. 1471 26


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