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17 Possible Causes for Cardiac Signs and Symptoms, Mutation in the Hereditary Hemochromatosis Gene

  • Hemochromatosis

    Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.[ncbi.nlm.nih.gov] Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.[mayoclinic.com] Sanger sequencing was conducted for the screening of mutation in the hereditary hemochromatosis related genes.[ncbi.nlm.nih.gov]

  • Congestive Heart Failure

    The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] This is a rare occurrence, especially in patients that do not exhibit any signs and symptoms of acute cardiac decompensation.[ncbi.nlm.nih.gov] […] a constellation of clinical symptoms (dyspnea and fatigue) and signs (edema and rales) that lead to frequent hospitalizations, a poor quality of life, and a shortened life[web.archive.org]

  • Restrictive Cardiomyopathy

    Cardiac Hemochromatosis Hereditary hemochromatosis (HH) is caused by increased absorption of dietary iron, which accumulates in various organs, leading to their dysfunction[doi.org] symptoms of hypoperfusion.[clinicaladvisor.com] Several mutations in genes involving iron absorption and metabolism can cause HH and influence clinical manifestations, severity of disease, and response to therapy.[doi.org]

  • Hemochromatosis-related Cardiomyopathy

    Classic hereditary hemochromatosis is caused by mutations of the HFE gene.[rarediseases.org] symptoms of hypoperfusion.[clinicaladvisor.com] […] biomarker elevation suggestive of myopericarditis; or when a patient presents with clinical signs and symptoms of an acute MI and a normal coronary angiogram.[clevelandclinicmeded.com]

  • Heart Failure

    The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] Cardiac amyloidosis should be seriously considered in any adult with signs or nonspecific symptoms of cardiac distress, most notably congestive heart failure due to underlying[ncbi.nlm.nih.gov] BACKGROUND: Remote patient management in patients with heart failure might help to detect early signs and symptoms of cardiac decompensation, thus enabling a prompt initiation[ncbi.nlm.nih.gov]

  • Primary Hemochromatosis Type 1

    Have identified at least eight mutations in the HAMP gene that result in juvenile hereditary hemochromatosis or hereditary hemochromatosis type 2.[ivami.com] Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.[mayoclinic.org] Type 1 : HFE OMIM: #235200 classical hemochromatosis also called hereditary hemochromatosis Mutation at the HFE gene on the short arm of the chromosome 6 position 6p21.3 encoding[i12r-studfilesrv.informatik.tu-muenchen.de]

  • Cryptogenic Cirrhosis

    Because of the discovery of the candidate gene (HFE) for hereditary hemochromatosis, we may now be able to screen high-risk patient populations for the abnormal mutation ([ncbi.nlm.nih.gov] Post Hepatitis and Cryptogenic Cirrhosis Cardiac , Cirrhosis, Metabolic, Hereditary, Drug Related Cirrhosis POST HEPATITIC Cirrhosis Cl i n ic a l f eatures · Signs and symptoms[medicscientist.com] CARDIAC CIRRHOSIS Prolonged, severe, right-sided congestive heart failure leads to chronic liver injury and cardiac cirrhosis.[medicscientist.com]

  • Behçet Disease

    OBJECTIVE: The aim of this work was to establish human leukocyte antigen (HLA) class I and hereditary hemochromatosis gene (HFE) mutation associations with recurrent aphthous[ncbi.nlm.nih.gov] The inflammation in the venous and arterial blood vessels of different sizes explains the manifold signs and symptoms of Behçet’s disease.[casereports.in] Apart from recurrent oral and genital ulcers; inflammation of the eyes, arthritis, central and peripheral nervous system damages, gastrointestinal and rarely cardiac involvement[casereports.in]

  • Wilson Disease

    Mutations in genes encoding ATPase, Cu transporting, beta polypeptide (ATP7B) and hemochromatosis (HFE) or several non-HFE genes are considered to be causative for WD and[ncbi.nlm.nih.gov] Cardiac manifestations, such as rhythm abnormalities and increased autonomic tone, have been described in patients with Wilson disease.[emedicine.medscape.com] The identification of specific mutations in the HFE gene of patients with hemochromatosis has permitted the introduction of genetic testing in the clinical setting.[intranet.tdmu.edu.ua]

  • Pyruvate Kinase Deficiency

    Abstract We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34 pyruvate kinase (PK)-deficient patients[ncbi.nlm.nih.gov] […] and symptom which is incidentally found on routine physical exam or Transthoracic Echocardiogram (TTE) for other purposes, to patients who present with dyspnea, cardiac failure[thefreelibrary.com] Arteriosus complicated by endocarditis and hemolytic anemia Introduction The clinical spectrum of presentation of a Patent Ductus Arteriosus (PDA) in adult may range from no sign[thefreelibrary.com]

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