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Coronary microcirculation dysfunction causing ischemia with non-obstructive coronary arteries: a case report

Wei Qi1,2, Yazheng Zhang1,2, Le Wang1,2

  • 1Department of Cardiology, Tianjin Chest Hospital, Tianjin, China.

Frontiers in Cardiovascular Medicine
|April 30, 2025
PubMed

Insights

This study details a case of Ischemia with No Obstructive Coronary Artery Disease (INOCA) caused by Coronary Microvascular Dysfunction (CMVD). A NOTCH1 gene variant was identified, potentially linking genetics to CMVD and INOCA.

Area of Science:

  • Cardiology
  • Genetics
  • Vascular Biology

Background:

  • Ischemia with No Obstructive Coronary Artery Disease (INOCA) affects patients with angina symptoms but without significant coronary artery blockages.
  • Coronary Microvascular Dysfunction (CMVD) is an increasingly recognized cause of INOCA, involving impaired regulation of coronary blood flow.
  • Understanding the underlying mechanisms of CMVD is crucial for accurate diagnosis and effective treatment of INOCA.

Observation:

  • A 53-year-old male presented with exertional angina and myocardial ischemia (12% of left ventricle) despite normal coronary angiography.
  • Diagnostic tests confirmed CMVD, showing an elevated Index of Microcirculatory Resistance (IMR) of 46.3 and a Quantitative Flow Ratio (QFR) of 0.94.
  • Genetic analysis revealed a NOTCH1 gene variant (c.3862G>A) in the patient and family members, suggesting a potential genetic predisposition.

Findings:

  • The identified NOTCH1 variant may contribute to CMVD by affecting vascular remodeling and microcirculatory control.
  • Treatment with nicorandil, coenzyme Q10, trimetazidine, and rosuvastatin led to symptom resolution and reversal of myocardial ischemia.
  • An MYH7 variant was detected but deemed clinically irrelevant due to the absence of cardiomyopathy in the family.

Implications:

  • This case highlights a potential genetic link between NOTCH1 variants and INOCA secondary to CMVD.
  • The findings support the need for further research into the role of NOTCH1 in vascular regulation and CMVD pathogenesis.
  • This case provides a foundation for improved diagnosis and personalized management strategies for INOCA patients.

Keywords:
anginacoronary arteriesmicrocirculation dysfunctionmyocardial ischemiavariation

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