Case report of severe coronary artery disease complicated by malignant arrhythmia due to inherited thrombophilia

TL;DR

A young man with inherited thrombophilia suffered severe heart disease and arrhythmia, highlighting the need for early screening in young patients with coronary issues.

Contribution

This case emphasizes the importance of screening young patients with coronary artery disease for inherited thrombophilia.

Findings

The patient had two thrombophilia alleles (PAI-1 4G/5G and MTHFR C > T) linked to arterial thrombosis.

Thrombophilia led to severe coronary occlusion, myocardial scarring, and ventricular tachycardia.

Early screening for thrombophilia could improve outcomes in young patients with coronary artery disease.

Abstract

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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