Document Detail


Two cases of Pompe's disease: case report and review of literature.
MedLine Citation:
PMID:  22572506     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Glycogen storage disease type II (also called Pompe's disease or acid maltase deficiency) is an autosomal recessive metabolic disorder which causes an accumulation of glycogen in the lysosomes due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. We are presenting two cases of infantile form of Pompe's disease with secondary hypertrophic cardiomyopathy (CMP). The first case was a 1-year-old female child who presented with Ross Class III heart failure (HF) of 3 months duration. Echocardiography (ECHO) showed concentric left ventricular (LV) hypertrophy, with the posterobasal segment more hypertrophic than the inter-ventricular septum and moderate pericardial effusion. The second case was a 2-month-old male child who presented with Ross Class II HF. His ECHO showed eccentric hypertrophy of the posterobasal left ventricle, with thickening of the mitral valve leaflets and the chordae with Grade I mitral regurgitation (MR). Both children were diagnosed to have Pompe's disease by blood alpha-glucosidase assay.
Authors:
A Jegadeeswari; V Amuthan; R A Janarthanan; S Murugan; S Balasubramanian
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2012-04-28
Journal Detail:
Title:  Indian heart journal     Volume:  64     ISSN:  0019-4832     ISO Abbreviation:  Indian Heart J     Publication Date:    2012 Mar-Apr
Date Detail:
Created Date:  2012-05-10     Completed Date:  2013-07-10     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  0374675     Medline TA:  Indian Heart J     Country:  India    
Other Details:
Languages:  eng     Pagination:  214-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Cardiomyopathy, Hypertrophic / complications*,  ultrasonography
Electrocardiography
Female
Glycogen Storage Disease Type II / complications*
Humans
Hypertrophy, Left Ventricular / ultrasonography
Infant
Male
Mitral Valve / pathology
Ultrasonography, Doppler, Color
Comments/Corrections

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