Document Detail

Post mortem molecularly defined familial hypercholesterolemia and sudden cardiac death of young men.
MedLine Citation:
PMID:  10664894     Owner:  NLM     Status:  MEDLINE    
Familial hypercholesterolemia (FH) is among the most common single-gene diseases and is due to mutations of the low-density lipoprotein (LDL) receptor gene. In heterozygous FH, serum LDL-cholesterol level is elevated two- to threefold compared to unaffected individuals, men in particular are prone to premature atherosclerosis and early cardiac deaths. However, very little data are available concerning the incidence of premature deaths in FH patients. In Finland two LDL receptor founder mutations cover two-thirds of FH cases, offering a unique possibility to study the potential role of FH in unexpected early cardiac deaths. We studied a total of 149 deceased who had suffered early (< or = 50 years) unexpected cardiac death due to coronary heart disease (CHD). Three individuals (2%) had molecularly defined heterozygous FH, and heterozygous FH was present in two (3%) of the 67 subjects who had demonstrable acute myocardial infarction (AMI). Considering that the two FH mutations cover two-thirds of FH cases in Finland, the overall prevalence of FH underlying early cardiac deaths caused by AMI may be estimated to be in the range 3 to 5%.
A F Vuorio; K Kontula; H Turtola; A Sajantila
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Forensic science international     Volume:  106     ISSN:  0379-0738     ISO Abbreviation:  Forensic Sci. Int.     Publication Date:  1999 Dec 
Date Detail:
Created Date:  2000-02-24     Completed Date:  2000-02-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7902034     Medline TA:  Forensic Sci Int     Country:  IRELAND    
Other Details:
Languages:  eng     Pagination:  87-92     Citation Subset:  IM    
Department of Internal Medicine, University of Helsinki, Finland.
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MeSH Terms
Arteriosclerosis / etiology
Cholesterol, LDL / blood
Cohort Studies
Coronary Disease / etiology,  genetics
Death, Sudden, Cardiac / etiology*
Hyperlipoproteinemia Type II / blood,  genetics*
Middle Aged
Molecular Biology
Mutation / genetics
Myocardial Infarction / etiology,  genetics
Receptors, LDL / genetics
Reg. No./Substance:
0/Cholesterol, LDL; 0/Receptors, LDL

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

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