Intractabilis szívelégtelenséget okozó juvenilis haemochromatosis

Translated title of the contribution: Juvenile haemochromatosis persenting as intractable congestive heart failure

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Abstract

Juvenile haemochromatosis is an autosomal, recessive inherited iron metabolism disorder. The rapid deterioration and malignant prognosis differentiate juvenile haemochromatosis from hereditaer haemochromatosis. The authors summarize the history of a 25 year old man, who worked in Hungary as a guest worker living in Romania. No significant illness has occurred in his previous history. The abdominal pain was his first symptom and he was treated in different institutions, where cholecystitis, alcoholic hepatic disease, hepatic cirrhosis were considered as a cause of his symptoms. Some weeks later atrial tachycardia, and congestive heart failure were observed and he was sent to our Cardiology Department. The echocardiography revealed diffúz hypokinesis, serious systolic dysfunction (ejection fraction: 21%), grade II mitral and tricuspid insuffiency with pulmonary hypertension. Considering the rapid deterioration of patient cardiac function myocarditis was supposed. Myocardial biopsy and coronary arteriography were performed. Coronary arteries were normal. Ventricular fibrillation has occurred during coronary arteriography. Myocardial biopsy revealed juvenile haemochromatosis. Special laboratory examinations (transferrin saturation) were made after biopsy, which also confirmed the diagnosis of juvenile haemochromatosis. Cardiac transplantation was planned. Some days after the diagnosis was made the patient died of cardiogenic shock and intractable heart failure. Autopsy revealed hypogonadism and serious haemochromatosis in different parenchymal organs. Conclusion: juvenile haemochromatosis should be considered in every young patient with congestive heart failure of unknown etiology.

Original languageHungarian
Pages (from-to)2605-2608
Number of pages4
JournalOrvosi hetilap
Volume146
Issue number51
Publication statusPublished - Dec 1 2005

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ASJC Scopus subject areas

  • Medicine(all)

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