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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: [email protected]
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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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References

1.Shwachman, H, Diamond, LK, Oski, FA, Khaw, KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964; 65: 645–663.Google Scholar
2.Boocock, GR, Morrison, JA, Popovic, M, et al. . Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003; 33: 97–101.Google Scholar
3.Costa, E, Santos, R. Hematologically important mutations: Shwachman-Diamond syndrome. Blood Cells Mol Dis 2008; 40: 183–184.CrossRefGoogle ScholarPubMed
4.Dror, Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005; 45: 892–901.CrossRefGoogle ScholarPubMed
5.Burroughs, L, Woolfrey, A, Shimamura, A. Shwachman-Diamond syndrome: a review of clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin N Am 2009; 23: 233–248.Google Scholar
6.Savilahti, E, Rapola, J. Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients. Acta Paediatr Scand 1984; 73: 642–651.CrossRefGoogle ScholarPubMed
7.Toiviainen-Salo, S, Pitkänen, O, Holmström, M, et al. . Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation. Pediatr Blood Cancer 2008; 51: 461.CrossRefGoogle ScholarPubMed