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Case Reports
. 2014 Jun;24(3):549-51.
doi: 10.1017/S104795111300084X. Epub 2013 Jun 27.

Atrioventricular septal defect in a case of Shwachman-Diamond syndrome

Laurianne Le Gloan  1 , Nicolas Blin  2 , Jean-Marc Langlard  1
Affiliations
Case Reports

Atrioventricular septal defect in a case of Shwachman-Diamond syndrome

Laurianne Le Gloan et al. Cardiol Young. 2014 Jun.

Abstract

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.

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