The role of genetics in a case of acute antero-lateral myocardial infarction in a young patient

Introduction: Thrombophilia, inherited or acquired, is characterized by the existence of a predisposition for thrombus formation, both venous and arterial. Although in a patient with thrombophilia the risk of developing acute myocardial infarction (MI) is modest, it is significantly higher than that of the general populati-on. As hypercoagulable states are comprised among the precipitating factors of MI, we can say that throm-bophilia is a condition worthy to be taken into consideration. Our aim is to report a case of acute antero-lateral myocardial infarction in a young patient, whose blood tests revealed a 4G/4G homozygote mutation in position 675 of PAI-1 gene and a heterozygote muta-tion of genes MTHFR C677T and MTHFR A1298C. Data in the literature is scarce regarding this topic.

Methods: The 43-year-old obese female patient was re-ferred to our clinic for acute antero-lateral myocardial infarction, with efficient thrombolysis. The ECG fin-dings and the elevated cardiac enzymes levels at admis-sion confirmed the diagnosis. The echocardiography examination showed significant wall motion abnormalities of the anterior, septal and apical segments of the left ventricle, with an ejection fraction (LVEF) of 40%. The coronary angiography disclosed a suboccluded ostial lesion of the left anterior descendent artery (LAD). Percutaneous transluminal angioplasty was performed with endoluminal stent placement from the left main artery to the proximal segment of the LAD, with good angiographic result. The patient was tested for the presence of thrombophilia.

Results: After several days, echocardiography revea-led the persistence of the severe left ventricle motion abnormalities, including apical dyskinesia and an api-cal thrombus of 1.5/3 cm, in addition to moderate secondary mitral regurgitation and moderate functional tricuspid regurgitation. Given the circumstances, oral anticoagulant therapy was added the standard treat-ment. Subsequent tests from the thrombophilia dia-gnosis spectrum disclosed the aforementioned gene mutations. The three-month follow-up showed an improvement of the patient’s general condition, of the wall motion abnormalities and of the degree of valvu-lopathies, a complete resolution of the apical thrombus and a LVEF of 45%. Long-term oral anticoagulant the-rapy was recommended in the context of the genetic profile of thrombophilia.

Conclusions: The patient’s young age for developing an acute myocardial infarction and the lack of the classic range of cardiovascular risk factors, made searching for a cause of a hypercoagulable state seem a reasonable attitude. This case confirms the fact that in young patients, without classic CV risk factors, inherited thrombophilia (in our situation a rare combination of a homozygote mutation of the PAI-1 gene with a hete-rozygote mutation in two loci of the MTHFR gene) can bear a significant impact. The condition must be diagnosed as fast as possible, in order for adequate short and long-term treatment to be prescribed, with the ul-timate scope of preventing thrombotic and/or throm-boembolic events from occurring.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)