Hostname: page-component-cd9895bd7-dk4vv Total loading time: 0 Render date: 2024-12-28T00:42:46.467Z Has data issue: false hasContentIssue false
  • English
  • Français

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: laurianne.legloan@chu-nantes.fr
Get access Rights & Permissions [Opens in a new window]

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 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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. Costa, E, Santos, R. Hematologically important mutations: Shwachman–Diamond syndrome. Blood Cells Mol Dis 2008; 40: 183–184.CrossRefGoogle ScholarPubMed
3. Dror, Y, Donadieu, J, Koglmeier, J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman–Diamond syndrome. Ann N Y Acad Sci 2011; 1242: 40–55.CrossRefGoogle ScholarPubMed
4. 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.Google Scholar
5. Nivelon, JL, Michiels, R, Martres-Lassaunière, MN, Passavy-Trouche, AM, Petit, A, Lorenzini, JL. Myocardial fibrosis in Shwachman's syndrome: pathogenic discussion of cardiac complications. Pediatrie 1978; 33: 461–469.Google Scholar
6. Graham, AR, Walson, PD, Paplanus, SH, Payne, CM. Testicular fibrosis and cardiomegaly in Shwachman's syndrome. Arch Pathol Lab Med 1980; 104: 242–244.Google Scholar
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: 461–467.Google Scholar
8. Kopel, L, Gutierrez, PS, Lage, SG. Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome. Cardiol Young 2011; 21: 588–590.Google Scholar
9. Hauet, Q, Beaupain, B, Michaud, M, et al. Cardiomyopathies and congenital heart diseases in Shwachman–Diamond syndrome: a national survey. Int J Cardiol 2012 [Epub ahead of print].Google Scholar
10. Maslen, CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol 2004; 19: 205–210.Google Scholar