Atrioventricular septal defect in a case of Shwachman-Diamond syndrome.

Autor: Le Gloan L; 1 Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, France., Blin N; 2 Service d'Hématologie, CHU de Nantes, France., Langlard JM; 1 Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, France.
Jazyk: angličtina
Zdroj: Cardiology in the young [Cardiol Young] 2014 Jun; Vol. 24 (3), pp. 549-51. Date of Electronic Publication: 2013 Jun 27.
DOI: 10.1017/S104795111300084X
Abstrakt: 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.
Databáze: MEDLINE