Hereditary Juvenile Haemochromatosis and Idiopathic Dilated Cardiomyopathy

Hereditary hemochromatosis (HH), a common autosomal recessive disease, is characterized by excessive iron overload/toxicity in multiple organs (joints, liver, heart, pancreas, pituitary, adrenals and skin). Symptoms and signs depend upon the location of the excess iron deposition. Dilated cardiomyopathy is a typical complication of HH. Juvenile haemochromatosis is a rare disorder of iron metabolism with clinical manifestations before 30 years of age. Two common mutations of the haemochromatosis associated gene (HFE), cys282tyr (C282Y) and his63asp (H63D), have been implicated in the HH. These genes also appear to be modulators in cardiovascular disease. In fact the HFE gene defects are related to idiopathic dilated cardiomyopathy (IDCM) in some patients, even though the results of genotype analyses were conflicting. In this case report we investigate a 21 year-old male patient affected by juvenile haemochromatosis associated with heterozygosity for the H63D mutation with an idiopathic dilated cardiomyopathy.