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Presented by Karin Klingel, MD, Department of Molecular Pathology, University Hospital Tübingen, Germany.
A 63 year old woman was admitted to the department of cardiology in a local hospital due to suspect for alcoholic cardiomyopathy. Echocardiography demonstrated a dilated left ventricle and a reduced left ventricular function (LVEF 35%). ECG revealed atrial fibrillation. In addition, since 2008 she suffered from liver cirrhosis which was also assumed to be alcohol-induced. A reduced vigilance was noted which was supposed to be the consequence of the liver cirrhosis or a concomitant M. Addison which was diagnosed on top.
In order to evaluate the aetiopathogenesis of the heart disease, and especially to exclude a storage disease, endomyocardial biopsies (EMB) were taken from the right ventricle without complications. As illustrated by Masson Trichrome staining, hypertrophic myocytes with granular deposits (circles) are observed in association with a moderate interstitial fibrosis. Prussian blue staining proved the presence of iron deposits in numerous myocytes. Thus, the diagnosis of a cardiac hemochromatosis was made. Importantly, hemochromatosis is a storage disease which not only explains heart failure and atrial fibrillation but also other organ manifestations of iron storage such as liver cirrhosis and Addison´s disease. Although Addison's syndrome is uncommon with iron overload, production of ACTH is occasionally deficient (http://sickle.bwh.harvard.edu/hemochromatosis.html). It has to be mentioned that alcohol is able to enhance the toxic effects in the organs which are affected by iron overload.
In conclusion this case confirms the power of EMB in reaching the aetiological diagnosis of an unexplained heart disease, strongly supporting the recommendations of the ESC Myocarditis Task Force1.
1. Caforio ALP, Pankuweit S, Arbustini E, Basso C, Gimeno-Blanes J, Felix SB, Fu M, Heliö T, Heymans S, Jahns R, Klingel K, Linhart A, Maisch B, McKenna W J, Mogensen J, Pinto Y, Ristic A, Schultheiss HP, Hubert SeggewissH, TavazziL, Thiene G, Yilmaz A, Charron P, ElliottPM. Current state of knowledge on aetiology, diagnosis, management and therapy of myocarditis. A Position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 20132013; 34:2636-48