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

Area of Science:

• Cardiology
• Genetics
• Vascular Medicine

Background:

• Myocardial infarction (MI) is a leading cause of death, with established risk factors.
• The link between inherited thrombophilia and acute MI is not fully understood.
• Genetic predispositions like PAI-1 polymorphism and MTHFR mutations may influence thrombotic events.

Observation:

• A 75-year-old male with known 4G/4G PAI-1 polymorphism, methylenetetrahydrofolate reductase (MTHFR) mutation, and peripheral artery disease (PAD) presented with acute MI.
• The patient experienced cardiogenic shock.
• Notably, the patient had no prior significant cardiac history.

Findings:

• This case illustrates a potential association between specific inherited thrombophilia disorders (PAI-1 4G/4G, MTHFR mutation) and acute MI.
• The presence of PAD and prior stenting may have contributed to the thrombotic event.
• The acute MI led to cardiogenic shock in the absence of previous cardiac disease.

Implications:

• Further research is warranted to elucidate the role of inherited thrombophilia in acute MI, particularly in patients with vascular comorbidities.
• Identifying individuals with these genetic risk factors could enable proactive cardiovascular risk management.
• This case underscores the importance of considering thrombophilia in patients presenting with unexplained acute coronary syndromes.