Hypertrophic cardiomyopathy or hereditary hemochromatosis? (RCD code: III‑2B.3.o)

Katarzyna Holcman, Paweł Rubiś, Sylwia Wiśniowska‑Śmiałek, Agata Leśniak‑Sobelga, Marta Hlawaty, Magdalena Kostkiewicz, Piotr Podolec

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Hemochromatosis is a disease resulting from excessive deposition of iron in parenchymal tissues. The most common form of this disease is associated with the homozygous p.Cys282Tyr mutation of the HFE gene. It leads to multisystemic disease including iron overload cardiomyopathy. Heterozygotes usually do not express a hemochromatosis phenotype, however there are known cases of iron overload in this group of patients. We present a case of 48-year old man, with family history of hereditary hemochromatosis, p.Cys282Tyr mutation carrier, who was admitted to cardiology department due to persistent atrial fibrillation episode. Laboratory tests revealed transferrin serum iron saturation value of 47,8% with other parameters of iron metabolism within the reference range. Transthoracic echocardiographic study showed image consistent with hypertrophic cardiomyopathy. Sinus rhythm was successfully restored by synchronized electrical cardioversion. Based on cardiovascular magnetic resonance imaging cardiac iron overload cardiomyopathy was ruled out. He was discharged home in good general condition without symptoms. JRCD 2016; 3 (1): 24–27


rare disease; iron overload cardiomyopathy; atrial fibrillation; echocardiography


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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol3no1.264


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