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Atrioventricular septal defect in a case of Shwachman–Diamond syndrome
Laurianne Le Gloan, Nicolas Blin, Jean-Marc Langlard
Journal:

Cardiology in the Young / Volume 24 / Issue 3 / June 2014

Published online by Cambridge University Press:

27 June 2013, pp. 549-551
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Shwachman–Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman–Diamond syndrome.

Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome
Liliane Kopel, Paulo S. Gutierrez, Silvia G. Lage
Journal:

Cardiology in the Young / Volume 21 / Issue 5 / 09 September 2011

Published online by Cambridge University Press:

13 April 2011, pp. 588-590
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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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2 results

Atrioventricular septal defect in a case of Shwachman–Diamond syndrome

Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome