Cover Image

Noncompaction myocardium in association with type Ib glycogen storage disease

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. Moreov...

Full description

Saved in:
Bibliographic Details
Main Authors: Goeppert, Benjamin (Author) , Lindner, Martin (Author) , Vogel, Monika Nadja (Author) , Warth, Arne (Author) , Stenzinger, Albrecht (Author) , Renner, Marcus (Author) , Schnabel, Philipp Albert (Author) , Schirmacher, Peter (Author) , Autschbach, Frank (Author) , Weichert, Wilko (Author)
Format: Article (Journal)
Language:English
Published: 31 July 2012
In: Pathology, research and practice
Year: 2012, Volume: 208, Issue: 10, Pages: 620-622
ISSN:1618-0631
DOI:10.1016/j.prp.2012.06.007
Online Access:Verlag, Volltext: http://dx.doi.org/10.1016/j.prp.2012.06.007
Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0344033812001938
Get full text
Author Notes:Benjamin Goeppert, Martin Lindner, Monika Nadja Vogel, Arne Warth, Albrecht Stenzinger, Marcus Renner, Philipp Schnabel, Peter Schirmacher, Frank Autschbach, Wilko Weichert
Description
Summary: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.
Item Description:Gesehen am 12.10.2018
Physical Description:Online Resource
ISSN:1618-0631
DOI:10.1016/j.prp.2012.06.007

Similar Items