Haemochromatosis presenting as congestive cardiomyopathy and responding to venesection.

Skinner, C; Kenmure, A. C. F.

doi:10.1136/hrt.35.4.466

Cited by 38 publications

(18 citation statements)

References 7 publications

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“…cardiac hemochromatosis is classically characterized by dilated cardiomyopathy, with dilated ventricles, reduced ejection fraction, and reduced fractional shortening. 36,47 Patients may initially present with exertional dyspnea because of diastolic dysfunction leading to restrictive hemodynamics and elevated filling pressures. Dilated cardiomyopathy with left ventricular (lv) systolic dysfunction eventually occurs as the disease progresses.…”

Section: Symptomatic Hemochromatosismentioning

confidence: 99%

Cardiac Involvement in Hemochromatosis

Gulati

Harikrishnan

Palaniswamy

et al. 2014

Cardiology in Review

122

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Cardiac hemochromatosis or primary iron-overload cardiomyopathy is an important and potentially preventable cause of heart failure. This is initially characterized by diastolic dysfunction and arrhythmias and in later stages by dilated cardiomyopathy. Diagnosis of iron overload is established by elevated transferrin saturation (>55%) and elevated serum ferritin (>300 ng/mL). Genetic testing for mutations in the HFE (high iron) gene and other proteins, such as hemojuvelin, transferrin receptor, and ferroportin, should be performed if secondary causes of iron overload are ruled out. Patients should undergo comprehensive 2D and Doppler echocardiography to evaluate their systolic and diastolic function. Newer modalities like strain imaging and speckle-tracking echocardiography hold promise for earlier detection of cardiac involvement. Cardiac magnetic resonance imaging with measurement of T2* relaxation times can help quantify myocardial iron overload. In addition to its value in diagnosis of cardiac iron overload, response to iron reduction therapy can be assessed by serial imaging. Therapeutic phlebotomy and iron chelation are the cornerstones of therapy. The average survival is less than a year in untreated patients with severe cardiac impairment. However, if treated early and aggressively, the survival rate approaches that of the regular heart failure population.

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Section: Symptomatic Hemochromatosismentioning

confidence: 99%

Cardiac Involvement in Hemochromatosis

Gulati

Harikrishnan

Palaniswamy

et al. 2014

Cardiology in Review

122

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“…[31][32][33] The average survival rates for untreated patients with severe cardiac impairment is 1 year. 34 Survival and symptomatology have been improved dramatically by iron removal with phlebotomy. 34,36,37 Direct confirmation of the degree of iron overload in hemochromatosis patients is difficult.…”

Section: Hemochromatosismentioning

confidence: 99%

Iron-mediated cardiovascular injury

Horwitz

Rosenthal

1999

Vasc Med

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Abstract:Iron is an essential element for normal cellular function and general health. However, iron may play a pathologic role in certain cardiac conditions including reperfusion injury, hemochromatosis, ␤-thalassemia and coronary atherosclerosis. It also may play a role in injury due to anthracycline cardiotoxicity. Removal of iron via phlebotomy for hemochromatosis and chelation therapy for ␤-thalassemia are proven treatments. Cell culture, and isolated organ and animal studies suggest that depleting iron stores may prevent reperfusion injury, restenosis and even atherogenesis. This article will review mechanisms by which iron overload states and normal iron stores contribute to cardiovascular pathophysiology and the accumulating evidence that iron chelation may prevent restenosis and atherogenesis.

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“…Laboratory investigations included hemoglobin 133 g/L, white blood count 6.4x10 6 . Chest x-ray showed cardiomegaly and moderate pulmonary edema.…”

Section: Casementioning

confidence: 99%

“…[1][2][3][4][5][6][7] There is, however, no emphasis in the literature on the potential of even the most severe HC to respond as well to venesections, and on the advantage of combining ironchelation therapy with small-volume venesections in the initial treatment of such patients who are usually unable to tolerate large-volume venesections.We report two cases of severe hereditary HC that responded remarkably well, and are currently leading a normal life off all cardiac medications, following smallvolume phlebotomies for a combination of two years, in the first three and six months of treatment, with subcutaneous deferoxamine. The first case presented with a cardioembolic stroke, a unique presentation of HC that has not been previously reported.…”

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confidence: 99%

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Severe Hereditary Hemochromatotic Cardiomyopathy Responsive to Small-Volume Venesections Combined with Deferoxamine

Madani

Bormanis

1996

Ann Saudi Med

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Several reports of patients with mildly to moderately severe hereditary hemochromatotic cardiomyopathy (HC) that responded well to venesections have been published. [1][2][3][4][5][6][7] There is, however, no emphasis in the literature on the potential of even the most severe HC to respond as well to venesections, and on the advantage of combining ironchelation therapy with small-volume venesections in the initial treatment of such patients who are usually unable to tolerate large-volume venesections.We report two cases of severe hereditary HC that responded remarkably well, and are currently leading a normal life off all cardiac medications, following smallvolume phlebotomies for a combination of two years, in the first three and six months of treatment, with subcutaneous deferoxamine. The first case presented with a cardioembolic stroke, a unique presentation of HC that has not been previously reported. Case 1A 36-year-old male engineer presented to the Ottawa Civic Hospital with a three-hour history of confusion, expressive aphasia and right hemiparesis. He had been on erythromycin for a flu-like illness in the preceding five days. He had noticed mild pedal edema during the preceding two months, with no other symptoms of heart failure. The patient had never smoked or drunk alcohol in excess. Three years earlier he had been diagnosed as having isolated hypogonadotrophic hypogonadism, for which he had been receiving monthly injections of testosterone. Four months prior to presentation the patient was diagnosed as having insulin-dependent diabetes mellitus. There was no family history of hemochromatosis.Physical examination revealed a conscious but inattentive patient with aphasia, a tanned bronze clammy skin, a pulse rate of 102 beats/minute with frequent ectopics, a blood pressure of 120/80 mmHg, a respiratory rate of 22 breaths/minute, and a temperature of 36.7°C. He had no stigmata and a jugular venous pressure of 4 cm above the sternal angle. A gallop rhythm with a loud third heart sound was audible on cardiac auscultation, but no heart murmurs. Chest examination revealed bilateral stony dullness with no crepitations. The abdomen was soft with no organomegaly or ascites. The patient had expressive aphasia, right facial droop and right hemiparesis of 4/5 power and an extensor right plantar reflex. Fundal examination was normal.Investigations included hemoglobin 149 g/L, white blood count 9.8x10 9 /L, platelets 230x10 9 /L, serum iron 26 µmol/L (N:5-25), ferritin 5213 µg/L (N:22-447), TIBC 31 µmol/L (N:42-71), transferrin saturation 84% (N:20-45), moderately elevated liver enzymes, normal total proteins, albumin, and prothrombin (PT) and activated thromboplastin (PTT) times, normal T 4 and TSH, negative rheumatoid factor, antinuclear, anti-Sm, anti-RNP, antiLa and anti-Ro antibodies. ECG showed sinus tachycardia, left axis deviation of -30, left atrial enlargement, poor Rwave progression, nonspecific T-waves changes and no Q-waves. Chest x-ray showed bilateral pleural effusion, mild cardiomegaly and no signs ...

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Haemochromatosis presenting as congestive cardiomyopathy and responding to venesection.

Cited by 38 publications

References 7 publications

Cardiac Involvement in Hemochromatosis

Cardiac Involvement in Hemochromatosis

Iron-mediated cardiovascular injury

Severe Hereditary Hemochromatotic Cardiomyopathy Responsive to Small-Volume Venesections Combined with Deferoxamine

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