title: Early diagnosis of hemochromatosis-related cardiomyopathy with magnetic resonance imaging.
abstract: The hallmark of hemochromatosis is the deposition of iron in multiple tissue types, most notably the skin, liver, pancreas, thyroid, and heart. Definitive diagnosis of iron deposition generally requires invasive methods, such as direct tissue biopsy. We describe a 40 year-old woman with end-stage liver disease secondary to hereditary hemochromatosis and alcohol abuse, who was referred to the cardiology service as part of an evaluation for orthotopic liver transplant. 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. Additional cardiac testing, including electrocardiography and resting echocardiography, raised suspicion for cardiomyopathy related to hemochromatosis but was non-diagnostic. Cardiac magnetic resonance (MR) of this patient revealed deposition of iron in the myocardium and established the diagnosis of hemachromatosis-related cardiomyopathy. These findings suggest that cardiac MR may be more sensitive than other non-invasive, diagnostic tools in the initial evaluation of hemochromatosis-related cardiomyopathy and may be used as an alternative to myocardial biopsy. We propose that conventional T1- and T2-weighted spin echo MR sequences can be used routinely as non-invasive modalities to assess the presence of iron deposition in the tissues of patients with hemochromatosis.
authors.affiliation: Department of Internal Medicine, Stanford University School of Medicine, Stanford, California, USA. lptaszek@stanford.edu
authors.forename: Leon M
authors.initials: LM
authors.lastname: Ptaszek
authors.forename: Erik T
authors.initials: ET
authors.lastname: Price
authors.forename: Mary Y
authors.initials: MY
authors.lastname: Hu
authors.forename: Phillip C
authors.initials: PC
authors.lastname: Yang
mesh_terms: D000328:Adult; D000437:Alcoholism / Q000150:complications; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D025401:Echocardiography, Stress; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D017093:Liver Failure / Q000209:etiology; D008279:Magnetic Resonance Imaging