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Multiple coronary artery thrombosis in 5,10-methylenetetrahydrofolate reductase gene mutation

Alfonso Campanile1, Fabiola B Sozzi, Gian Battista Danzi

  • 1Department of Cardiology, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Via F. Sforza, 35 20122 Milano, Italy.

Cardiology Research and Practice
|September 16, 2011
PubMed

Insights

A young man with chest pain had extensive coronary artery thrombosis due to high homocysteine levels from a MTHFR gene anomaly. Prompt angioplasty and stenting led to a positive cardiac event-free outcome.

Area of Science:

  • Cardiology
  • Genetics
  • Biochemistry

Background:

  • Coronary artery disease (CAD) is a leading cause of mortality.
  • Elevated homocysteine levels are a known risk factor for cardiovascular events.
  • Genetic factors, such as MTHFR gene mutations, can influence homocysteine metabolism.

Purpose of the Study:

  • To report a case of extensive coronary artery thrombosis in a young patient.
  • To investigate the underlying cause of premature cardiovascular events.
  • To highlight the role of MTHFR gene anomaly and hyperhomocysteinemia.

Main Methods:

  • Case presentation of a 42-year-old male with chest pain.
  • Diagnostic workup including ECG, echocardiography, and coronary angiography.
  • Biochemical analysis for plasma homocysteine levels.
  • Genetic testing for MTHFR gene mutations.

Main Results:

  • Coronary angiography revealed extensive thrombosis in the right coronary artery and left anterior descending artery.
  • Biochemical analysis showed high plasma homocysteine levels.
  • The patient was found to have a homozygotic MTHFR gene anomaly.
  • Successful primary angioplasty with stenting was performed.

Conclusions:

  • Severe hyperhomocysteinemia due to MTHFR gene anomaly can lead to premature and extensive coronary artery thrombosis.
  • Early diagnosis and intervention are crucial for managing such cases.
  • Genetic screening may be beneficial in young patients with unexplained cardiovascular events.

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