Document Detail


Dominantly inherited dilated cardiomyopathy.
MedLine Citation:
PMID:  3605207     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a family in which there is segregating an autosomal dominant gene determining a cardiomyopathy. The pathodynamics is that of pump failure associated with dilatation of the heart, generally having an overt clinical onset from the fourth through seventh decades. Dysrhythmia is a frequent concomitant feature. There may be an associated skeletal myopathy, either producing a very mild proximal weakness or proving detectable only upon biopsy. This family is similar to other reported cases of familial dominant "idiopathic" dilated cardiomyopathy, but the nature of the heterogeneity within this category remains to be elucidated. The roles of echocardiography, cardiac biopsy, and skeletal muscle biopsy in the presymptomatic detection of the heterozygote are noted.
Authors:
R J Gardner; J W Hanson; V V Ionasescu; H H Ardinger; D J Skorton; L T Mahoney; M N Hart; E F Rose; W L Smith; M S Florentine
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  27     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1987 May 
Date Detail:
Created Date:  1987-07-24     Completed Date:  1987-07-24     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  61-73     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Aged
Arrhythmias, Cardiac / genetics
Cardiomyopathy, Dilated / diagnosis,  genetics*,  physiopathology
Child
Echocardiography
Female
Genes, Dominant
Humans
Male
Middle Aged
Muscles / pathology
Myocardium / pathology
Pedigree

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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