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Atrioventricular septal defect in a case of Shwachman–Diamond syndrome

Published online by Cambridge University Press:  27 June 2013

Laurianne Le Gloan ,
Nicolas Blin  and
Jean-Marc Langlard
Laurianne Le Gloan*
Affiliation:
Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, France
Nicolas Blin
Affiliation:
Service d'Hématologie, CHU de Nantes, France
Jean-Marc Langlard
Affiliation:
Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, France
*
Correspondence to: Dr L. Le Gloan, Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, 44093 Nantes, Cedex 1, France. Tel: +33 2 40 16 50 07; Fax: +33 2 40 16 50 24; E-mail: [email protected]
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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.

Keywords

Shwachman–Diamond syndromeatrioventricular septal defectcongenital heart diseaseneutropaenia
Type
Brief Reports
Information
Cardiology in the Young , Volume 24 , Issue 3 , June 2014 , pp. 549 - 551
Copyright
Copyright © Cambridge University Press 2013 

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