Key result
Inherited thrombophilia involving PAI-1 and MTHFR alleles in a young man led to early-onset acute myocardial infarction, severe coronary artery occlusion, and ventricular tachycardia.
Why the study?
Patients presenting with early-onset myocardial infarction are seldom screened for thrombophilic genes, resulting in delayed diagnosis and unfavourable prognosis.
Case Report (n=1)
Highlights the importance of screening for inherited thrombophilia in young and middle-aged patients presenting with early-onset myocardial infarction or severe coronary artery stenosis.
May support thrombophilia evaluation in select young MI patients; hypothesis-generating and requires prospective validation before practice change.
The principal clinical manifestation of thrombophilia is venous thromboembolism, which is also markedly linked to arterial thrombosis, including myocardial infarction. Nevertheless, patients presenting with an early-onset myocardial infarction are seldom screened for thrombophilic genes, resulting in delayed diagnosis and an unfavourable prognosis. This report presents the case of a young man who suffered an acute myocardial infarction as a result of thrombophilia. The patient had a history of deep vein thrombosis and was genetically tested to carry two thrombophilia susceptibility alleles at the PAI-1 (4G/5G) and MTHFR (C > T) loci. This ultimately resulted in severe coronary artery occlusion, myocardial scarring and frequent episodes of ventricular tachycardia, which had a significant impact on the patient's quality of life. The objective of this report was to enhance clinicians' awareness of embolism susceptibility. It is recommended that young and middle-aged patients with severe coronary artery stenosis undergo screening for embolism.
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Yu et al. (2025) conducted a case report in Acute myocardial infarction and severe coronary artery disease due to inherited thrombophilia (n=1). Inherited thrombophilia (PAI-1 and MTHFR alleles) was evaluated on Severe coronary artery occlusion, myocardial scarring and frequent episodes of ventricular tachycardia. Inherited thrombophilia involving PAI-1 and MTHFR alleles in a young man led to early-onset acute myocardial infarction, severe coronary artery occlusion, and ventricular tachycardia.
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