28-year old patient with successfully treated dilatative cardiomyopathy

被引：2

作者：

Burri, E. ^{[1
]}

Decker, M. ^{[1
]}

Eriksson, U. ^{[1
]}

Buser, R. ^{[1
]}

Hunzikerl, L. ^{[1
]}

机构：

[1] Univ Spital Basal, CH-4031 Basel, Switzerland

来源：

INTERNIST | 2008年 / 49卷 / 03期

关键词：

cardiomyopathy; iron overload; hemochromatosis; phlebotomy;

D O I：

10.1007/s00108-007-2007-6

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

A 28-year was admitted with heart failure. His medical history included treatment for hypogonadotropic hypogonadism. Echocardiography showed dilatation of all chambers. Elevated serum ferritin levels and liver biopsy indicated hereditary hemochromatosis. Cardiac iron overload was seen on magnetic resonance imaging. Genetic testing revealed homozygosis for G320 V mutation, confirming the diagnosis of juvenile hemochromatosis. Phlebotomy on a biweekly regimen was started and after twelve months of therapy the patient had normal ferritin values as well as normal ejection fraction on echocardiography.

引用

收藏

页码：349 / 352

页数：4

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