Hereditary Juvenile Haemochromatosis and Idiopathic Dilated Cardiomyopathy
Fiorella Devito
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Annapaola Zito
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Annamaria Dachille
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Rosa Carbonara
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Francesco Giardinelli
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Marco Matteo Ciccone *
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
*Author to whom correspondence should be addressed.
Abstract
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.
Keywords: Dilated cardiomyopathy, genetics, haemochromatosis