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

**Authors:** Jinmei Yu, Lin Zhou, Chengying Yang, Xingyuan Kou, Le Li, Xinrong Fan, Xing Liu

PMC · DOI: 10.3389/fcvm.2025.1517117 · 2025-04-09

## 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.

## Key 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.

## Linked entities

- **Genes:** SERPINE1 (serpin family E member 1) [NCBI Gene 5054], MTHFR (methylenetetrahydrofolate reductase) [NCBI Gene 4524]
- **Diseases:** thrombophilia (MONDO:0002305), venous thromboembolism (MONDO:0005399), myocardial infarction (MONDO:0005068), ventricular tachycardia (MONDO:0005477)

## Full-text entities

- **Genes:** MTHFR (methylenetetrahydrofolate reductase) [NCBI Gene 4524], SERPINE1 (serpin family E member 1) [NCBI Gene 5054] {aka PAI, PAI-1, PAI1, PLANH1}
- **Diseases:** inherited thrombophilia (MESH:C540694), myocardial infarction (MESH:D009203), deep vein thrombosis (MESH:D020246), coronary artery occlusion (MESH:D054059), arterial thrombosis (MESH:D002341), venous thromboembolism (MESH:D054556), myocardial scarring (MESH:D002921), ventricular tachycardia (MESH:D017180), embolism (MESH:D004617), coronary artery stenosis (MESH:D023921), thrombophilia (MESH:D019851), coronary artery disease (MESH:D003324), malignant arrhythmia (MESH:D001145)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12014574/full.md

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Source: https://tomesphere.com/paper/PMC12014574