Multiple thrombophilia mutations as a possible cause of premature myocardial infarction
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10360977" target="_blank" >RIV/00216208:11110/17:10360977 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10360977
Result on the web
<a href="http://dx.doi.org/10.1007/s00508-017-1193-z" target="_blank" >http://dx.doi.org/10.1007/s00508-017-1193-z</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00508-017-1193-z" target="_blank" >10.1007/s00508-017-1193-z</a>
Alternative languages
Result language
angličtina
Original language name
Multiple thrombophilia mutations as a possible cause of premature myocardial infarction
Original language description
The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years. In this patient, without traditional risk factors for atherosclerosis, eight mutations and polymor-phisms in six different genes were identified: polymorphism of factor V Leiden (1691 GA), factor II prothrombin (20210 GA), methylenetetrahydrofolate reductase (MTHFR, 677 CT and 1298 AC), plasminogen activator inhibitor 1 (PAI-1) polymorphism 4G/5G and glycoprotein VI (GP6, 13254 TC, Ser219Pro). All could be involved in the pathogenesis of the arterial thrombosis. Although such associations are extremely rare, it underlines the importance of thrombophilia assessment in cases with otherwise unexpected coronary disease occurring at young age. According to our experience, in the case of documented hereditary thrombophilia lineal relatives should be examined and/or followed up.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Wiener Klinische Wochenschrift
ISSN
0043-5325
e-ISSN
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Volume of the periodical
129
Issue of the periodical within the volume
13-14
Country of publishing house
AT - AUSTRIA
Number of pages
6
Pages from-to
503-508
UT code for WoS article
000405516300009
EID of the result in the Scopus database
2-s2.0-85017147682