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CASE REPORT

ACE Gene Mutations (rs577350502) in Early-Onset and Recurrent Myocardial Infarction: A Case Report and Review

, , , , , , & show all
Pages 163-169 | Received 19 Dec 2023, Accepted 04 Apr 2024, Published online: 20 Apr 2024
 

Abstract

Background

Acute myocardial infarction (AMI) is a severe acute coronary syndrome, demonstrating a trend toward affecting younger individuals in recent years. The association between early-onset myocardial infarction and single nucleotide polymorphism necessitates further exploration and evaluation.

Case description

We present a case of a patient experiencing early-onset and recurrent myocardial infarction. The patient underwent stent implantation for myocardial infarction at the age of 53 and subsequently encountered two more myocardial infarctions within a span of 16 years. Following interventional therapy, genetic testing was conducted to assess the efficacy of subsequent anti-heart failure medications, with the aim to preemptively address heart failure risks. Genetic testing revealed a mutation in the angiotensin-converting enzyme (ACE) gene (rs577350502, g.63488533C>A), characterized by an intron-deletion single nucleotide variant.

Conclusion

While this variant has not been previously reported to be associated with any specific disease, we hypothesize that it may contribute to the susceptibility and risk of myocardial infarction and coronary heart disease in the patient under consideration. This observation underscores the significance of investigating the insertion/deletion polymorphisms of the ACE gene in the context of AMI and emphasizes the necessity for further validation of this variant and other genetic markers associated with AMI in related diseases.

Data Sharing Statement

All data generated or analysed during this study are included in this article. Further enquiries can be directed to the corresponding author.

Ethics Approval and Consent to Participate

This study was conducted with approval from the Ethics Committee of Wangjing Hospital, China Academy of Chinese Medical Sciences (WJEC-KT-2022-065-P001). This study was conducted in accordance with the declaration of Helsinki. Written informed consent was obtained from the participant.

Consent for Publication

Consent for the publication of the case was obtained from the patient.

Acknowledgments

We would like to acknowledge the hard and dedicated work of all the staff that implemented the intervention and evaluation components of the study.

Disclosure

The authors declare that they have no competing interests in this work.

Additional information

Funding

National Natural Science Foundation of China (No.82174415). Science and technology innovation project of Chinese Academy of Traditional Chinese Medicine (No. CI2021A05054).