JUVENILE PRIMITIVE HEMOCHROMATOSIS WITH CARDIOMYOPATHY DEBUT. CASE REPORT
Abstract:
Juvenile hemochromatosis represents a rare entity, caused by mutation of HFE2 gene-situated
on chromosome 1 or HAMP gene-situated on chromosome 19, that, characteristically occurs in the first
up to the third decade of life. Cardiomyopathy is frequent in these patients and sometimes is the path to
diagnose the disease. Also, it represents the main cause of death. The authors expose the case of a
patient diagnosed with juvenile hemochromatosis, with multiple organic involvement.The disease
debuted with dilatative cardiomyopathy, involving the excitoconductor system (complete atrioventricular
block with syncope). Despite all adequate therapeutic measures clinical outcome was severe, with
patients death.
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