Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ KEY FEATURES +++ ESSENTIALS OF DIAGNOSIS ++ Fasting transferrin saturation > 50–60% is a sensitive screening test Conduction abnormalities, arrhythmias, and heart failure History of severe anemia with repeated blood transfusion Bronze skin, diabetes, and liver cirrhosis +++ GENERAL CONSIDERATIONS ++ Autosomal recessive iron storage disease that involves the heart, as well as the pancreas, skin, liver, and gonads Usually causes dilated cardiomyopathy, but may cause restrictive cardiomyopathy Conduction abnormalities and supraventricular and ventricular arrhythmias occur in one-third of patients Primary iron overload is due to inappropriately increased iron absorption from the gut Secondary iron overload is due to repeated blood transfusions for severe anemia often due to thalassemia +++ CLINICAL PRESENTATION +++ SYMPTOMS AND SIGNS ++ Dyspnea, fatigue, edema Diabetes Hepatic cirrhosis, liver failure, or hepatoma Pituitary failure +++ PHYSICAL EXAM FINDINGS ++ Irregular pulse, bradycardia, or tachycardia Signs of congestive heart failure Bronze skin +++ DIFFERENTIAL DIAGNOSIS ++ Idiopathic dilated cardiomyopathy Idiopathic restrictive cardiomyopathy +++ DIAGNOSTIC EVALUATION +++ LABORATORY TESTS ++ Fasting transferrin saturation > 50% and elevated serum ferritin > 300 ng/mL Genetic testing for mutations in iron regulatory genes should be performed if secondary causes of iron overload are ruled out +++ ELECTROCARDIOGRAPHY ++ Conduction disturbances Supraventricular or ventricular tachycardia +++ IMAGING STUDIES ++ Echocardiography: may show systolic or diastolic dysfunction, chamber dilation, or hypertrophy. Strain imaging and speckle tracking hold promise for earlier detection of disease Cardiac MRI with measurement of T2* relaxation times can help quantify myocardial iron overload +++ DIAGNOSTIC PROCEDURES ++ Myocardial biopsy may be required in some cases to establish the cause of cardiomyopathy +++ TREATMENT +++ CARDIOLOGY REFERRAL ++ Significant arrhythmias Heart failure +++ HOSPITALIZATION CRITERIA ++ Severe heart failure Heart block Hemodynamically significant cardiac arrhythmias +++ MEDICATIONS ++ Iron chelation with deferoxamine +++ THERAPEUTIC PROCEDURES ++ Phlebotomy (cardiomyopathy may show dramatic recovery) +++ SURGERY ++ Cardiac transplantation in advanced cases +++ ONGOING MANAGEMENT +++ HOSPITAL DISCHARGE CRITERIA ++ Resolution of problem +++ FOLLOW-UP ++ Frequent and for an extended period +++ COMPLICATIONS ++ Heart block Syncope Cardiogenic shock Sudden death +++ PROGNOSIS ++ Cardiac disease causes death in about one-third of hemochromatosis patients Overall survival is less than a year in untreated patients with severe cardiac involvement +++ RESOURCES ... Your Access profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free a profile for additional features.