Key result
CMR rules out cardiac iron overload in a hemochromatosis carrier presenting with AF and HCM.
Why the study?
Heterozygous carriers of the p.Cys282Tyr HFE gene mutation may present with iron overload cardiomyopathy, but differentiation from hypertrophic cardiomyopathy is challenging.
Case Report (n=1)
No
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
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Holcman et al. (2016) conducted a case report in Hereditary hemochromatosis mutation carrier with atrial fibrillation (n=1). Cardiovascular magnetic resonance imaging was evaluated on Cardiac iron overload. Cardiovascular magnetic resonance imaging ruled out cardiac iron overload in a 48-year-old p.Cys282Tyr mutation carrier presenting with atrial fibrillation and suspected hypertrophic cardiomyopathy.
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