# Cardiogenic Shock in a Patient With 4G/4G PAI Polymorphism and MTHFR A1298C Mutation

**Authors:** Ijeoma Orabueze, Inemesit Akpan, Valerie Cluzet, Mark Harrison

PMC · DOI: 10.7759/cureus.53554 · 2024-02-04

## TL;DR

A 75-year-old man with genetic mutations and peripheral artery disease developed cardiogenic shock from a heart attack despite no prior heart issues.

## Contribution

This case highlights a potential link between inherited thrombophilia and acute myocardial infarction leading to cardiogenic shock.

## Key findings

- A patient with 4G/4G PAI-1 polymorphism and MTHFR A1298C mutation developed cardiogenic shock from acute MI.
- The patient had no prior significant cardiac history but had peripheral artery disease.
- Inherited thrombophilia may contribute to acute MI in susceptible individuals.

## Abstract

Myocardial infarction (MI) remains a common cause of morbidity and mortality. Although many well-known risk factors exist, the association between inherited thrombophilia disorders and acute MI is not well described. Here, we present a case of a 75-year-old male with known 4G/4G PAI-1 polymorphism, methylenetetrahydrofolate reductase (MTHFR) mutation, and peripheral artery disease (PAD) post stent placement who presented with cardiogenic shock in the setting of acute MI with no prior significant cardiac history.

## Linked entities

- **Genes:** SERPINE1 (serpin family E member 1) [NCBI Gene 5054], MTHFR (methylenetetrahydrofolate reductase) [NCBI Gene 4524]
- **Diseases:** myocardial infarction (MONDO:0005068), cardiogenic shock (MONDO:0800175)

## Full-text entities

- **Genes:** SERPINE1 (serpin family E member 1) [NCBI Gene 5054] {aka PAI, PAI-1, PAI1, PLANH1}, MTHFR (methylenetetrahydrofolate reductase) [NCBI Gene 4524]
- **Diseases:** Cardiogenic Shock (MESH:D012770), PAD (MESH:D058729), Myocardial infarction (MESH:D009203), inherited thrombophilia disorders (MESH:C540694)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** A1298C

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10917360/full.md

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Source: https://tomesphere.com/paper/PMC10917360