title: Noncompaction myocardium in association with type Ib glycogen storage disease.
abstract: Noncompaction myocardium is a rare disorder assumed to occur as an arrest of the compaction process during the normal development of the heart. Left ventricular noncompaction has been reported to be associated with a variety of cardiac and extracardiac, especially neuromuscular abnormalities. Moreover, it has been suggested that metabolic alterations could be responsible for the noncompaction. However, no association of noncompaction myocardium with type Ib glycogen storage disease (GSD) has been reported so far. Type Ib GSD is due to a defect of a transmembrane protein which results, similar to type Ia GSD, in hypoglycemia, a markedly enlarged liver and, additionally, in neutropenia, recurrent infections, and inflammatory bowel disease. Until now, no muscular or cardiac involvement has been described in type Ib GSD patients. The present case represents the first report of a noncompaction myocardium in a child with type Ib GSD who died of sudden clinical deterioration at the age of four.
authors.affiliation: Institute of Pathology, University Hospital Heidelberg, Germany. benjamin.goeppert@med.uni-heidelberg.de
authors.forename: Benjamin
authors.initials: B
authors.lastname: Goeppert
authors.forename: Martin
authors.initials: M
authors.lastname: Lindner
authors.forename: Monika Nadja
authors.initials: MN
authors.lastname: Vogel
authors.forename: Arne
authors.initials: A
authors.lastname: Warth
authors.forename: Albrecht
authors.initials: A
authors.lastname: Stenzinger
authors.forename: Marcus
authors.initials: M
authors.lastname: Renner
authors.forename: Philipp
authors.initials: P
authors.lastname: Schnabel
authors.forename: Peter
authors.initials: P
authors.lastname: Schirmacher
authors.forename: Frank
authors.initials: F
authors.lastname: Autschbach
authors.forename: Wilko
authors.initials: W
authors.lastname: Weichert
mesh_terms: D001344:Autopsy; D002675:Child, Preschool; D017809:Fatal Outcome; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D006323:Heart Arrest / Q000209:etiology; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D008099:Liver / Q000473:pathology; D008297:Male; D009206:Myocardium / Q000378:metabolism / Q000473:pathology*