Atrioventricular septal defect in a case of Shwachman-Diamond syndrome

作者：Le Gloan Laurianne^*; Blin Nicolas; Langlard Jean Marc

来源：Cardiology in the Young, 2014, 24(3): 549-551.

DOI：10.1017/S104795111300084X

• Shwachman-Diamond syndrome
• neutropaenia
• atrioventricular septal defect
• congenital heart disease

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.

• 出版日期2014-6