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Hemochromatosis-related Cardiomyopathy

Dilated Cardiomyopathy Secondary to Hemochromatosis


  • Myocardial siderosis was present in 6/18 (33%) of patients with presenting ferritin 1000 μg/L at diagnosis but in 0/13 (0%) patients with ferritin 2 0.20, p   0.011).[jcmr-online.biomedcentral.com]
  • […] typically presents between the 1st and 3rd decades of life, and neonatal presentation is exceedingly rare.[unboundmedicine.com]
  • Sinus tachycardia is frequently present, and non-specific ST-segment or T-wave changes as well as changes in P-wave morphology may well be present.[textbookofcardiology.org]
  • A more typical presentation is with fatigue, malaise, arthralgia and hepatomegaly. Other features include cardiomyopathy (which may present with signs of right heart failure) diabetes, and hypogonadism.[diapedia.org]
  • For this reason, hereditary hemochromatosis is also called an iron overload disorder.Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive.[icdlist.com]
  • Symptoms include fatigue, hyperpigmentation, diabetes mellitus (" bronze diabetes "), and arthralgia.[amboss.com]
  • The patient reports only an increase in fatigue over the last two year, which he attributed to growing older.[gwumc.edu]
  • The typical patient with HFE hemochromatosis is male, of European origin, aged 40-50 years, and presents with fatigue, skin pigmentation, arthralgia and/or hepatomegaly.[diapedia.org]
  • Someone who experiences tiredness, fatigue or joint pain may not exercise to avoid exacerbating these symptoms.[en.wikibooks.org]
Coarctation of the Aorta
  • […] of the Aorta 581 The Heart in Pregnancy معلومات المراجع[books.google.com]
  • Introduction A 51-year-old man with a 2-year history of type II diabetes mellitus, erectile dysfunction, and 3-month history of fatigue was referred in March 2011 to the cardiology department of a local hospital because of 1 week of progressive dyspnea, orthopnea[circheartfailure.ahajournals.org]
  • He also reported orthopnea. He had intermittent cough productive of white sputum and wheezing. He was anxious and tremulous. Since the onset of symptoms his exercise tolerance had declined from a baseline of more than ten blocks to two blocks.[karger.com]
Heart Disease
  • Diseases 561 Abnormalities of Right Ventricular Outflow 571 Infarction 446 Abnormal Vascular Connections and Structures 600 Suggested Readings 632 INDEX Masses Tumors and Source of Embolus 711 Echocardiography in Systemic Disease and Clinical Problem[books.google.com]
  • Familial and senile amyloid heart disease are related to the overproduction of transthyretin. Myocardial amyloid heart disease is confirmed by EMB.[clevelandclinicmeded.com]
  • Read more: Cardiomyopathy (Restrictive) Article SLIDESHOW Heart Disease: Causes of a Heart Attack See Slideshow Treatment & Diagnosis Medications & Supplements Prevention & Wellness Medically Reviewed by a Doctor on 2/24/2012[medicinenet.com]
  • Possible causes of symptoms in suspected coronary heart disease but normal angiograms.[munstermom.tripod.com]
  • disease Dilated cardiomyopathy secondary to polyarteritis nodosa Dilated cardiomyopathy secondary to protozoal myocarditis Dilated cardiomyopathy secondary to radiation Dilated cardiomyopathy secondary to Refsum's disease Dilated cardiomyopathy secondary[icd9data.com]
  • The patient had no cardiac history but a dobutamine stress echocardiogram, performed as a portion of the pre-operative cardiac evaluation, could not be completed due to intermittent, supraventricular tachycardia.[ncbi.nlm.nih.gov]
  • Tachycardia-induced cardiomyopathy Persistently high heart rates (above 110 beats per minute), such as in sustained ventricular tachycardia, or associated with atrial fibrillation, results in heart failure when left untreated.[textbookofcardiology.org]
  • Tachycardia-induced cardiomyopathy Pregnancy Peripartum cardiomyopathy 2003 The Cleveland Clinic Foundation.[clevelandclinicmeded.com]
  • Tachycardia-induced cardiomyopathy – persistent tachycardia, particularly uncontrolled atrial fibrillation, atrio-ventricular nodal reentry, and preexcitation syndromes with ventricular rates of 130 to 200 beats per minute may lead to DCM.[escardio.org]
  • The ECG showed sinus tachycardia with left atrial and ventricular hypertrophy and repolarization abnormalities. A chest radiograph ( Figure 1 ) revealed cardiomegaly and bilateral pleural effusion.[circheartfailure.ahajournals.org]
  • Other mechanisms may affect particular organs (eg, skin hyperpigmentation can result from increased melanin as well as iron accumulation).[merckmanuals.com]
  • Symptoms include fatigue, hyperpigmentation, diabetes mellitus (" bronze diabetes "), and arthralgia.[amboss.com]
  • Hyperpigmentation is most evident on sun- exposed skin, particularly on the face. The colour of skin can be slate grey or brownish bronze.[dermnetnz.org]
  • A combination of iron deposition and melanin causes the skin bronzing or hyperpigmentation that is typical of the disease.[emedicine.medscape.com]
  • The "tetrad" consists of (1) cirrhosis (scarring of the liver), (2) diabetes mellitus (insulin-sugar metabolism), (3) hyperpigmentation of the skin (bronze colouring), and (4) cardiac failure.[en.citizendium.org]


Iron Increased
  • Alcohol and haemochromatosis Studies show that the combination of alcohol and iron increases the way in which free radicals cause ‘oxidative stress’ in the body.[britishlivertrust.org.uk]
  • Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol. 1999 Sep. 31(3):421-9. [Medline]. O'Sullivan EP, McDermott JH, Murphy MS, Sen S, Walsh CH.[emedicine.medscape.com]
Transferrin Saturation Increased
  • Biochemical testing reveals increased elevated transferrine saturation, increase plasma iron levels with low or normal iron binding capacity.[textbookofcardiology.org]
T Wave Inversion
  • Electrocardiographic diagnostic criteria for HCM in first-degree relatives of index cases with HCM : Major: Left ventricular hypertrophy and repolarization changes T-wave inversion in leads I and aVL ( 3mm) (with QRS–T wave axis difference 30 ), V3–V6[textbookofcardiology.org]
Myocardial Fibrosis


  • Parameters of Treatment of Hereditary Hemochromatosis Patients With Phlebotomy and Erythrocytapheresis Phlebotomy Erythrocytapheresis Serum ferritin at the start of treatment, μg/L 3011 1796 Serum ferritin at the end of treatment, μg/L 1796 41 No procedures[circheartfailure.ahajournals.org]
  • Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional.[betterhealth.vic.gov.au]
  • Treatment for haemochromatosis As well as treating the symptoms of cardiomyopathy, treatment for the underlying haemochromatosis will also be given. For more information on treatment visit The Haemochromatosis Society (opens new window) .[cardiomyopathy.org]
  • Management and treatment Intensive phlebotomies, sometimes combined with iron chelation therapy, form the basis of treatment. Prognosis Complications like heart failure are often fatal.[orpha.net]


  • Prognosis Complications like heart failure are often fatal. Early and intensive iron depletive therapy can significantly improve an otherwise devastating prognosis.[orpha.net]
  • […] indicated in patients with LVEF The prognosis of LVNC has currently not yet been defined.[textbookofcardiology.org]
  • The gold standard for diagnosing hemochromatosis is definitive genetic testing for the affected genes. 1 Prognosis Hemochromatosis has a potentially excellent prognosis dependent with early diagnosis of the disease.[emdocs.net]
  • Identification of these areas and restoration of their perfusion through revascularization might improve the ejection fraction and long-term prognosis.[clevelandclinicmeded.com]


  • Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • II – Forms A) Etiology The etiology of DCM is heterogeneous. In developed countries CAD and myocardial infarction (MI) are the most common causes of HF, approximating 50-75% of all HF patients.[escardio.org]
  • Etiology Two types of the disease have been described, both being transmitted in an autosomal recessive way.[orpha.net]
  • Etiology Primary (hereditary) hemochromatosis Classical and most frequent form: adult hemochromatosis type 1 Homozygous or heterozygous for the HFE gene defect Located on chromosome 6 Most commonly affects C282Y and H63 Inheritance: autosomal recessive[amboss.com]


  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • Summary Epidemiology HH type 2 is a rare disease (less than 100 reported cases) with a broad geographical distribution. Both sexes are equally affected. Clinical description Age of onset is usually less than 30 years.[orpha.net]
  • General Epidemiology: Genetic defect - HFE gene. [1] One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin. [2] Homozygotes get the disease. [1] Onset in males earlier than females (due to menses[librepathology.org]
  • Explain the epidemiology and prevalence of Hereditary Hemochromatosis: Approximately 10% of United States and Western European Caucasians have the heterozygous mutation causing the disease.[gwumc.edu]
Sex distribution
Age distribution


  • Arthropathy. [6] Pathophysiology: Iron overload - cirrhosis. Microscopic Features: Periportal iron deposition (early). Late stage disease has diffuse iron deposition. Brown granular - may vaguely look like lipofuscin on H&E.[librepathology.org]
  • […] ineffective erythropoiesis with disturbances in the uptake of iron in heme or iron metabolism disorder iron overload Examples: hereditary sideroblastic anemia ; anemia of chronic disease Excessive alcohol consumption References: [4] [2] [5] [6] [7] Pathophysiology[amboss.com]
  • Etiology and Pathophysiology HHC type 1 is caused by mutations in the HFE gene (most commonly C282Y and/or H63D ), type 2 by mutations in either the HJV or HAMP gene, type 3 by mutations in the TFR2 gene, and type 4 by mutations in the SLC11A3 gene.[unboundmedicine.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with a carrier frequency of approximately[mayomedicallaboratories.com]
  • Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. J Card Fail. 2010 ; 16 :888–900. Crossref Medline Google Scholar[circheartfailure.ahajournals.org]


  • Preventing organ damage from haemochromatosis If a person is diagnosed before significant symptoms arise, they can prevent organ damage and disease symptoms by maintaining iron in the normal range.[betterhealth.vic.gov.au]
  • Indeed, genetic screening makes it potentially preventable.[munstermom.tripod.com]
  • Read more: Cardiomyopathy (Restrictive) Article SLIDESHOW Heart Disease: Causes of a Heart Attack See Slideshow Treatment & Diagnosis Medications & Supplements Prevention & Wellness Medically Reviewed by a Doctor on 2/24/2012[medicinenet.com]
  • European Journal of Cardiovascular Prevention & Rehabilitation, 14(3), 470-475. Shizukuda, Y., Bolan, C. D., Tripodi, D. J., Yau, Y.-Y., Smith, K. P., Sachdev, V., et al. (2006).[en.wikibooks.org]
  • These data indicate that an early detection program using TSAT ( 5 ) would prevent morbidity and postpone mortality.[clinchem.aaccjnls.org]

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