Document Detail

Parental genetic contribution to mode of presentation in Pompe disease.
MedLine Citation:
PMID:  3469615     Owner:  NLM     Status:  MEDLINE    
Echocardiograms were performed on parents of five infants with Pompe disease (glycogen storage disease, type II). Three of the infants had presented with congestive cardiomyopathy and two with dynamic muscular subaortic stenosis. No heart murmurs were audible in any of the parents of the five infants. The parents of the three infants without left ventricular outflow tract obstruction had normal echocardiographic results, whereas one parent of each of the infants with left ventricular outflow obstruction had asymmetric septal hypertrophy. The association between left ventricular outflow obstruction and parental asymmetric septal hypertrophy suggests that both septal hypertrophy and glycogen storage disease were inherited by these two infants.
C M Cottrill; G L Johnson; J A Noonan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatrics     Volume:  79     ISSN:  0031-4005     ISO Abbreviation:  Pediatrics     Publication Date:  1987 Mar 
Date Detail:
Created Date:  1987-03-31     Completed Date:  1987-03-31     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  379-81     Citation Subset:  AIM; IM    
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MeSH Terms
Cardiomyopathy, Hypertrophic / diagnosis,  genetics*
Glycogen Storage Disease / genetics*
Glycogen Storage Disease Type II / genetics*,  pathology
Infant, Newborn
Myocardium / pathology

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