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Published on: February 26, 2013

Recurrent arterial thrombosis associated with the antithrombin basel variant and elevated lipoprotein(a) plasma level

Szabolcs Szilágyi1, Andrea Péter, Mária Tünde Magyar

  • 1Institute of Cardiology, Thrombosis and Haemostasis Research Group of the Hungarian Academy of Sciences, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary. szabszil@dote.hu

Journal of Pediatric Hematology/Oncology
|December 3, 2011
PubMed

Insights

A young patient experienced myocardial infarction and ischemic stroke despite antiplatelet therapy, revealing a rare genetic antithrombin variant (AT Basel) and high lipoprotein(a) as potential causes for arterial thrombosis.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Thrombosis Research

Background:

  • Myocardial infarction and ischemic stroke are uncommon in adolescents.
  • A 15-year-old male presented with recurrent arterial thrombotic events.
  • Previous cardiac surgery for an atrioventricular canal defect was noted.

Observation:

  • The patient experienced myocardial infarction and subsequent ischemic stroke.
  • He was on uninterrupted antiplatelet therapy.
  • Elevated lipoprotein(a) and decreased antithrombin (AT) activity were detected.

Findings:

  • Genetic analysis identified heterozygosity for the AT Basel (p.Pro41Leu) variant.
  • This variant is associated with impaired heparin binding.
  • The combination of AT Basel and elevated lipoprotein(a) may contribute to arterial thrombosis.

Implications:

  • This case highlights a potential genetic predisposition to arterial thrombogenesis in young individuals.
  • It suggests that AT Basel and elevated lipoprotein(a) may play a role in rare thrombotic events.
  • Further research into the pathophysiological mechanisms linking these factors to thrombosis is warranted.

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