扩张型心肌病病人生活质量影响因素及护理进展

扩张型心肌病（dilated cardiomyopathy，DCM）主要特征是单侧或双侧心腔扩大，心肌收缩期功能减退，伴或不伴有充血性心力衰竭，常伴有心律失常，男多于女，在我国发病率为（13～84）例／10万人，病死率较高Ⅲ，是心脏移植的最主要原因。     

Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene

Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. It presents in the early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis. Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis. Here, we report a patient of Arab ancestry who presented with severe cardiomyopathy. Sequence analysis of the HJV gene followed by homozygosity mapping, identified a previously undescribed homozygous missense variation in exon 3 (c.497A > G; p.H166R) in both the proband and his clinically asymptomatic brother. The former, later developed hepatocellular carcinoma. To the best of our knowledge, neither the mutation identified in our patient, nor a case of juvenile hemochromatosis with hepatocellular carcinoma has been reported before.