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

• Published in: Journal of Atherosclerosis and Thrombosis Vol. 27; no. 1; pp. 100 - 103
• Main Authors: Ueda, Kazuki, Morishita, Eriko, Shiraki, Hironaga, Matsuoka, Shunzo, Imashuku, Shinsaku
• Format: Journal Article
• Language: English
• Published: Japan Japan Atherosclerosis Society 01.01.2020
• Subjects: Aortic mural thrombosis; Case Report; Congenital thrombophilia; Protein C deficiency; Congenital thrombophilia; Protein C deficiency; Aortic mural thrombosis
• ISSN: 1340-3478; 1880-3873
• DOI: 10.5551/jat.48819

Thrombophilia increases the risk of venous thrombosis, but is rarely responsible for aortic thrombosis. Aortic mural thrombus (AMT) may be associated with a protein C deficiency. However, it is necessary to determine whether the protein C deficiency is congenital/hereditary or secondary/acquired (consumption of protein C during the process of thrombus formation). This study describes a 77-year-old Japanese woman with incidentally diagnosed AMT, who had a protein C deficiency (activity 54%, antigen 42%). Sequencing of the protein C gene revealed a heterozygous mutation of c.1268delG, p.Gly423Valfs＊82 in exon 9, indicating a congenital protein C deficiency. These findings indicate that very late onset AMT can occur in an adult with congenital protein C deficiency.