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Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome

Published online by Cambridge University Press:  13 April 2011

Liliane Kopel ,
Paulo S. Gutierrez  and
Silvia G. Lage
Liliane Kopel*
Affiliation:
Critical Care Unit, Department of Cardiology, Heart Institute, School of Medicine, University of São Paulo, São Paulo, Brazil
Paulo S. Gutierrez
Affiliation:
Department of Pathology, Heart Institute, School of Medicine, University of São Paulo, São Paulo, Brazil
Silvia G. Lage
Affiliation:
Critical Care Unit, Department of Cardiology, Heart Institute, School of Medicine, University of São Paulo, São Paulo, Brazil
*
Correspondence to: L. Kopel, Heart Institute, School of Medicine, University of São Paulo, Avenida Dr Enéas de Carvalho Aguiar 44, São Paulo, CEP 05403-900, Brazil. Tel/Fax: 55-11-3069 5397; E-mail: dcllili@incor.usp.br
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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.

Keywords

Shwachman–Diamond syndromecardiac failuredilated cardiomyopathyneutropenia
Type
Brief Reports
Information
Cardiology in the Young , Volume 21 , Issue 5 , 09 September 2011 , pp. 588 - 590
Copyright
Copyright © Cambridge University Press 2011

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