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

Hemochromatosis is a heterogeneous genetic disease. Juvenile hemochromatosis is a severe rare recessive autosomal disease. Herein, we report a consanguineous family linked to a mutation in the recently identified HJV gene. A refractory cardiogenic shock had revealed hemochromatosis in the proband, a 26-year-old woman, and led to the death by heart failure. Regular phlebotomies in her young sister, which was also affected, had allowed to prevent the severe complications of the disease. These two affected subjects presented an identical homozygous haplotype at the 1q21 chromosome region and a missense homozygous mutation at the HJV gene (Arg288 > Trp). This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications.
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PMID:Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. 1531 89

Juvenile haemochromatosis is an autosomal, recessive inherited iron metabolism disorder. The rapid deterioration and malignant prognosis differentiate juvenile haemochromatosis from hereditary haemochromatosis. The authors summarize the history of a 25 year old man, who worked in Hungary as a guest worker living in Romania. No significant illness has occurred in his previous history. The abdominal pain was his first symptom and he was treated in different institutions, where cholecystitis, alcoholic hepatic disease, hepatic cirrhosis were considered as a cause of his symptoms. Some weeks later atrial tachycardia, and congestive heart failure were observed and he was sent to our Cardiology Department. The echocardiography revealed diffuse hypokinesis, serious systolic dysfunction (ejection fraction: 21%), grade II mitral and tricuspid insufficiency with pulmonary hypertension. Considering the rapid deterioration of his cardiac function, myocarditis was suspected. Myocardial biopsy and coronary arteriography were performed. Coronary arteries were normal. Ventricular fibrillation occurred during coronary arteriography. Myocardial biopsy revealed juvenile haemochromatosis. Special laboratory examinations (transferrin saturation) were made after biopsy, that also confirmed the diagnosis of juvenile haemochromatosis. Cardiac transplantation was planned. Some days after the diagnosis was made the patient died of cardiogenic shock and intractable heart failure. Autopsy revealed hypogonadism and serious haemochromatosis in different parenchymal organs. Juvenile haemochromatosis should be considered in every young patient with congestive heart failure of unknown etiology.
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PMID:[Juvenile haemochromatosis presenting as intractable congestive heart failure]. 1646 15

Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism, genetically heterogeneous. In JH, symptomatic organ involvement occurs as early as the second decade of life. Heart failure and/or arrhythmias are the most frequent causes of death. Phlebotomy is the safest, most effective, and most economic therapeutic approach in hemochromatosis patients but is not indicated during the treatment of severe congestive heart failure with unstable hemodynamic status. The treatment of iron overload in these prohibitive clinical situations has to be carried out using iron chelators. We report a case of heart failure in the setting of unrecognized juvenile hemochromatosis successfully treated by the simultaneous administration of deferoxamine and deferiprone. To our knowledge, this is the first patient affected by JH treated with combined chelation regimen.
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PMID:Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). 1696 Jan 53

Iron-induced heart failure is the primary cause of death in thalassemia major patients who receive continuous transfusions. Recent studies have suggested that diastolic function is impaired prior to systolic function in process of hemochromatosis, but they did not come to agreement on the first impaired diastolic index. Additionally, serum ferritin concentration is not a reliable indicator of body iron storage since it increases in any simple inflammation. Accordingly, the authors undertook this study to assess any association between left ventricular diastolic indices and serum ferritin in thalassemic patients with normal systolic function to estimate the true amount of body iron storage and correct it in earlier stages. Serum ferritin concentration and diastolic indices were measured in 29 patients with normal left ventricular systolic function. Linear regression test was used to find any association between hematological and cardiac factors. No significant association was found between diastolic indices and serum ferritin concentration. But the results were quite different in patients above and below 15 years of age; standardized coefficients (r) for peak of E and A were increased in patients above 15, and the significance was close to .05, unlike those of younger group. Although no correlation was found between serum ferritin and diastolic indices, the results were noteworthy in patients above 15. To appropriately judge this relation, the study must be continued with a bigger sample size and having patients' mean serum ferritin concentration during the 2 past years.
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PMID:The relation between left ventricular diastolic indices and serum ferritin in thalassemia major. 1713 Jan 9

Hereditary hemochromatosis is now recognized as a very common inherited disease of the Caucasian population. It is defined as a disorder of unique clinicopathology caused by mutations of genes that control iron metabolism. Inappropriately increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress in tissues. This results in significant cellular damage, induction of inflammation, and fibrosis. Liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, and cardiac insufficiency are diagnosed in the advanced phase of this disease. The natural course is modified by environmental factors and personal predisposition. Three forms of hemochromatosis with the pathophysiology of iron overload are described. Among them the classical form, juvenile hemochromatosis with severe course and circulatory insufficiency, and ferroportin disease are presented. Properly directed diagnostics makes early treatment protecting against disease progression and multiorgan insufficiency possible.
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PMID:[Hereditary hemochromatosis: the most frequent inherited human disease]. 1724 17

Since the discovery of HFE gene in 1996, considerable progress has been made concerning the iron-metabolism and its major abnormalities. Five types of hereditary hemochromatosis are actually known: type 1 (HFE gene), type 2A (HJV gene), type 2B (HAMP gene), type 3 (TfR2 gene), type 4 (SLC40A1 gene). The HFE C282Y +/+ mutation is responsible for the most frequent type of hemochromatosis in France. Various secondary causes can lead to iron-overload: associated genetic diseases, exogenous iron intake, thalassaemia and refractory anaemia, hepatic siderosis, alcoholic hepatitis, cutaneous porphyria and cirrhosis. The deleterious consequences of iron-overload are due to the interactions of the environmental factors. The role of HFE heterozygote mutations is still discussed. In clinical practice, the interpretation of a serum ferritin increase is a frequent problem that needs a careful evaluation based on the tranferrin saturation measurement. Significant increase of both these factors is in favour of an HFE C282Y +/+ hemochromatosis, after exclusion of a hepatocellular insufficiency or a refractory anaemia. Nevertheless, high ferritin is not always a marker of iron-overload. Thus, there are many disorders increasing the serum ferritin levels without iron overload : cytolysis (hepatic...), inflammatory or infectious syndromes, high alcohol intake, neoplasia... Looking for HFE mutations help to separate type 1 hemochromatosis from other conditions mainly hepatic siderosis (metabolic disorders). The identification of rare types of hemochromatosis (types 2-4) is only required in particular cases. The evaluation of the iron overload is now based on hepatic MRI determination rather than liver biopsy. Repeated phlebotomies remain the essential way to decrease the iron overload in HFE hemochromatosis and to prevent the occurrence of severe and irreversible complications (cirrhosis, arthropathies, cardiac failure, and diabetes). Because of the link established between the amount of iron-overload and the occurrence of complications and the mortality over-risk in HFE C282Y +/+ hemochromatosis, venesections must be started when serum ferritin is higher than 300 microg/l in man and 200 microg/l in woman, whatever the clinical manifestations are and obviously before the symptomatic phase of the disease.
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PMID:[Hereditary and acquired iron overload]. 1737 75

Cardiac involvement in hemochromatosis affects mainly the myocardium: iron overload of the myocytes reduces left ventricular distensibility. Heart failure is the most frequent manifestation of cardiac involvement. Diagnosis of cardiac involvement depends essentially on Doppler echocardiography showing abnormal left ventricular filling and, later, ventricular dilatation with left ventricular systolic dysfunction. Magnetic resonance imaging can quantify intrahepatic and intramyocardial iron levels. Age at onset of symptoms and specific organ involvement in hemochromatosis depend on the type of mutation. The two principal means of treatment by iron depletion are phlebotomy in primary hemochromatosis and excretion of iron by chemical chelation in secondary hemochromatosis. Early diagnosis and iron depletion improve survival by reducing organ iron overload, especially in the liver and the myocardium. Recent guidelines issued by Anaes (national agency for health evaluation) make it possible to identify risk factors for complications early, to determine disease stage, and to provide appropriate management as a function of disease severity.
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PMID:[Cardiac involvement in hemochromatosis]. 1757 80

A 30-year-old Japanese woman with acquired severe aplastic anemia (SAA), diagnosed 20 years ago, was referred to our institution for allogeneic stem cell transplantation (SCT). As an unusual case of long-standing SAA, the patient was complicated with moderate heart failure due to secondary hemochromatosis. After successful SCT using a non-myeloablative conditioning regimen, she needed no transfusion. Five years after SCT, echocardiography showed a dramatic improvement of her cardiac function. This case indicates that the cardiac function in secondary hemochromatosis could be reversed once iron overload from multitransfusions is stopped.
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PMID:Reversible cardiomyopathy due to secondary hemochromatosis with multitransfusions for severe aplastic anemia after successful non-myeloablative stem cell transplantation. 1599 46

There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45%) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8% of the 51 participants with previous H/IO reports had elevated TS; 13.7% had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25-29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire.
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PMID:Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening. 1772 83

A 28-year was admitted with heart failure. His medical history included treatment for hypogonadotropic hypogonadism. Echocardiography showed dilatation of all chambers. Elevated serum ferritin levels and liver biopsy indicated hereditary hemochromatosis. Cardiac iron overload was seen on magnetic resonance imaging. Genetic testing revealed homozygosis for G320 V mutation, confirming the diagnosis of juvenile hemochromatosis. Phlebotomy on a biweekly regimen was started and after twelve months of therapy the patient had normal ferritin values as well as normal ejection fraction on echocardiography.
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PMID:[28-year old patient with successfully treated dilatative cardiomyopathy]. 1821 19


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