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Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome
Liliane Kopel1, Paulo S Gutierrez, Silvia G Lage
1Critical Care Unit, Department of Cardiology, Heart Institute, School of Medicine, University of São Paulo, São Paulo, Brazil. dcllili@incor.usp.br
Abstract:
The Shwachman-Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a patient with a long history of cardiac failure and diagnosis of dilated cardiomyopathy with intermittent neutropenia. Periodic follow-up revealed progressive cardiac failure and pulmonary hypertension. A diagnosis of Shwachman-Diamond syndrome was made at the autopsy.
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