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Aortic Mural Thrombus Associated with Congenital Protein C Deficiency in an Elderly Patient

Kazuki Ueda1, Eriko Morishita2, Hironaga Shiraki3

  • 1Department of Internal Medicine, Uji-Tokushukai Medical Center.

Journal of Atherosclerosis and Thrombosis
|May 17, 2019
PubMed

Insights

A rare case of aortic mural thrombus (AMT) in a 77-year-old woman was linked to congenital protein C deficiency. This suggests late-onset AMT can occur in adults with this genetic condition.

Area of Science:

  • Vascular Medicine
  • Genetics
  • Hematology

Background:

  • Thrombophilia typically elevates venous thrombosis risk but rarely causes aortic thrombosis.
  • Aortic mural thrombus (AMT) has been occasionally linked to protein C deficiency, necessitating differentiation between congenital and acquired forms.

Observation:

  • A 77-year-old Japanese woman presented with incidentally discovered aortic mural thrombus (AMT).
  • She exhibited protein C deficiency with 54% activity and 42% antigen levels.

Findings:

  • Genetic analysis revealed a heterozygous mutation (c.1268delG, p.Gly423Valfs*82) in the protein C gene's exon 9.
  • This mutation confirmed a diagnosis of congenital protein C deficiency.

Implications:

  • Congenital protein C deficiency can manifest as aortic mural thrombus (AMT) even in advanced age.
  • This case highlights the importance of genetic screening for protein C deficiency in patients with unusual thrombotic events like AMT.

Keywords:
Aortic mural thrombosisCongenital thrombophiliaProtein C deficiency

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