Kopel Liliane, Gutierrez Paulo S, Lage Silvia G
Critical Care Unit, Department of Cardiology, Heart Institute, School of Medicine, University of São Paulo, São Paulo, Brazil.
Cardiol Young. 2011 Oct;21(5):588-90. doi: 10.1017/S1047951111000308. Epub 2011 Apr 13.
The Shwachman-Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a patient with a long history of cardiac failure and diagnosis of dilated cardiomyopathy with intermittent neutropenia. Periodic follow-up revealed progressive cardiac failure and pulmonary hypertension. A diagnosis of Shwachman-Diamond syndrome was made at the autopsy.
施瓦赫曼-戴蒙德综合征是一种常染色体隐性遗传性骨髓衰竭综合征，伴有外分泌胰腺功能不全。其他器官系统，如肝脏、心脏和骨骼，也可能受到影响。我们报告了一名有长期心力衰竭病史且诊断为扩张型心肌病伴间歇性中性粒细胞减少症的患者。定期随访显示心力衰竭和肺动脉高压呈进行性发展。尸检时诊断为施瓦赫曼-戴蒙德综合征。
