| Post mortem molecularly defined familial hypercholesterolemia and sudden cardiac death of young men. | |
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MedLine Citation:
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PMID: 10664894 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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%. |
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Authors:
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A F Vuorio; K Kontula; H Turtola; A Sajantila |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Forensic science international Volume: 106 ISSN: 0379-0738 ISO Abbreviation: Forensic Sci. Int. Publication Date: 1999 Dec |
Date Detail:
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Created Date: 2000-02-24 Completed Date: 2000-02-24 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7902034 Medline TA: Forensic Sci Int Country: IRELAND |
Other Details:
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Languages: eng Pagination: 87-92 Citation Subset: IM |
Affiliation:
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Department of Internal Medicine, University of Helsinki, Finland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Arteriosclerosis / etiology Cholesterol, LDL / blood Cohort Studies Coronary Disease / etiology, genetics Death, Sudden, Cardiac / etiology* Finland Heterozygote Humans Hyperlipoproteinemia Type II / blood, genetics* Incidence Male Middle Aged Molecular Biology Mutation / genetics Myocardial Infarction / etiology, genetics Receptors, LDL / genetics |
| Chemical | |
Reg. No./Substance:
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0/Cholesterol, LDL; 0/Receptors, LDL |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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