Multiple thrombophilia mutations as a possible cause of premature myocardial infarction

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/17:10360977

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Multiple thrombophilia mutations as a possible cause of premature myocardial infarction

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Multiple thrombophilia mutations as a possible cause of premature myocardial infarction

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Wiener Klinische Wochenschrift

ISSN

0043-5325

e-ISSN

—

Svazek periodika

129

Číslo periodika v rámci svazku

13-14

Stát vydavatele periodika

AT - Rakouská republika

Počet stran výsledku

6

Strana od-do

503-508

Kód UT WoS článku

000405516300009

EID výsledku v databázi Scopus

2-s2.0-85017147682