title: Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome.
abstract: 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.
authors.affiliation: Critical Care Unit, Department of Cardiology, Heart Institute, School of Medicine, University of São Paulo, São Paulo, Brazil. dcllili@incor.usp.br
authors.forename: Liliane
authors.initials: L
authors.lastname: Kopel
authors.forename: Paulo S
authors.initials: PS
authors.lastname: Gutierrez
authors.forename: Silvia G
authors.initials: SG
authors.lastname: Lage
mesh_terms: D000293:Adolescent; D001855:Bone Marrow Diseases / Q000150:complications*; D002311:Cardiomyopathy, Dilated / Q000209:etiology*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008068:Lipomatosis / Q000150:complications*; D000081003:Shwachman-Diamond Syndrome