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Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome

  • Liliane Kopel (a1), Paulo S. Gutierrez (a2) and Silvia G. Lage (a1)


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.


Corresponding author

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:


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