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Acute myocardial infarction in a young patient with hyperhomocysteinaemia

Vincent Ukachukwu1, Salah Idris, Alister McIlwee

  • 1Emergency Department, Ulster Hospital, Belfast, UK.

BMJ Case Reports
|November 13, 2012
PubMed

Insights

Homocysteinuria, a metabolic disorder, significantly increases vascular event risk. This case highlights a myocardial infarction in a patient with homocysteinuria due to poor treatment compliance, emphasizing the need for consistent management.

Area of Science:

  • Cardiology
  • Metabolic Disorders
  • Genetics

Background:

  • Homocysteinuria is a rare inherited metabolic disorder.
  • Elevated homocysteine levels are a known risk factor for vascular events.
  • Patient non-compliance with treatment can exacerbate underlying conditions.

Observation:

  • A 36-year-old male with homocysteinuria presented with symptoms of myocardial infarction.
  • ECG and troponin levels confirmed an anterior ST-elevation myocardial infarction.
  • The patient had a history of poor adherence to homocysteinuria treatment.

Findings:

  • Extensive thrombus in the left anterior descending artery required intervention.
  • Echocardiogram revealed impaired left ventricular function and apical akinesis.
  • Markedly elevated homocysteine levels were noted alongside cardiac markers.

Implications:

  • This case underscores the critical link between homocysteinuria management and cardiovascular health.
  • Aggressive homocysteine-lowering therapy (betaine, folic acid) is crucial for preventing vascular complications.
  • Adherence to treatment is paramount in managing rare metabolic disorders and their sequelae.

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