Document Detail

Familial neurofibromatosis and hypertrophic cardiomyopathy.
MedLine Citation:
PMID:  3140859     Owner:  NLM     Status:  MEDLINE    
Two siblings from a family in which neurofibromatosis was inherited as an autosomal dominant had hypertrophic cardiomyopathy and neurofibromatosis. Idiopathic hypertrophic cardiomyopathy may have occurred by chance in two first degree relatives with neurofibromatosis. An alternative explantation is that these diseases are both manifestations of a common hereditary defect of neural crest tissue. Another possibility is that abnormalities of catecholamine metabolism and nerve growth factor in neurofibromatosis can cause secondary ventricular hypertrophy with septal involvement.
A P Fitzpatrick; R W Emanuel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  British heart journal     Volume:  60     ISSN:  0007-0769     ISO Abbreviation:  Br Heart J     Publication Date:  1988 Sep 
Date Detail:
Created Date:  1988-12-02     Completed Date:  1988-12-02     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370634     Medline TA:  Br Heart J     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  247-51     Citation Subset:  AIM; IM    
Cardiac Department, Westminster Hospital, London.
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MeSH Terms
Cardiomyopathy, Hypertrophic / complications,  genetics*
Middle Aged
Neurofibromatosis 1 / complications,  genetics*
Skin Neoplasms / complications,  genetics*

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