SaŽeTaK: Svjedoci smo sve češćih slučajeva akutnih koronarnih sindroma u mlađih bolesnika, odnosno u bolesnika u kojih ne nalazimo prisutne tipične preinačive ili nepreinačive čimbenike rizika. Veći-na studija defi nira mlađe pacijente kao osobe dobi do 45 godina. U takvih se bolesnika obično dijagnosticira akutni infarkt miokarda (AIM) s normalnim koronarnim arterijama, odnosno koronarne arterije ne pokazuju intraluminalne nepravilnosti (stroga defi nicija) ili arterije s manjim stupnjem stenoze, ali hemodinamski bez značenja (u većini slučajeva < 30% stenoza). Nedavno objavljena studija (APPROACH) utvrdila je učestalost akutnog infarkta miokarda s normalnim koronarnim arterijama u iznosu od 2,8% u bolesnika podvrgnutih koronarnoj angiografi ji kod AIM-a. Diferencijalna dijagnoza takvih akutnih koronarnih zbivanja uključuje miokarditis, stres miokardiopatije i sindrom baloniranja vrška lijeve klijetke. Ne postoji jedinstveno objašnjenje nastanka AIM-a s normalnim koronarnim arterijama, ali predloženo je nekoliko mogućih mehanizama: latentna ateroskleroza, vazospazam, tromboza i hiperkoagulabilno stanje, embolizacija i upala. Postoje stečeni i nasljedni sindrom trombofi lije.U ovom ćemo prikazu opisati povezanost između nasljednih oblika trombofl ije u koje ubrajamo mutaciju faktora V Leiden, mutacija gena za protrombin, manjak proteina C i proteina S, manjak antitrombina i mutacija gena za glikoprotein inhibitor plazminogen aktivatora-1 s akutnim oblicima srčanožilnih bolesti.
SUMMaRY:We are witnessing increasingly frequent cases of acute coronary syndrome in younger patients, or in patients who did not present the typical risk factors. Most studies defi ne younger patients as persons under 45 years of age. Such patients are typically diagnosed with acute myocardial infarction (AMI) with normal coronary arteries, i.e. the coronary artery does not show intraluminal anomalies (strict defi nition) or with a smaller artery stenosis but hemodynamically insignifi cant (in most cases <30% stenosis). A recently published study (APPROACH) determined the prevalence of AMI with normal coronary arteries was 2.8% in patients who underwent coronary angiography for AMI. Differential diagnosis of such acute coronary events includes myocarditis, stress cardiomyopathy, and Takotsubo syndrome. There is no single explanation for the origin of AMI with normal coronary arteries, but a few possible mechanisms have been suggested: latent atherosclerosis, vasospasm, thrombosis and hypercoagulability, embolization, and infl ammation. We differentiate between acquired and inherited thrombophilia syndrome.In this report, we will describe a link between hereditary forms of trombophilia (a mutation of factor V Leiden, prothrombin gene mutation, defi ciency of protein C and protein S, antithrombin defi ciency, and mutations in the gene for glycoprotein plasminogen activator inhibitor-1) and acute forms of cardiovascular disease.KlJUČNe RIJeČI: trombofi lija, akutni koronarni sindrom, infarkt miokarda s urednim koronarnim arterijama.KeYWORDS:...