Hypodysfibrinogenemia with a Heterozygous Mutation of gamma Cys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus

作者：Ushijima Akiko; Komai Taichi; Masukawa Atsuko; Oikawa Keiko; Morita Norishige; Asai Satomi; Mukai Saki; Okumura Nobuo; Kobayashi Yoshinori; Miyachi Hayato^*

来源：Cardiology, 2017, 137(3): 167-172.

DOI：10.1159/000457899

• Dysfibrinogenemia
• Heterozygous gamma Cys326Ser mutation
• Pulmonary thromboembolism
• Right ventricular thrombus

We encountered a 45-year-old Japanese man who suffered from pulmonary thromboembolism and huge right ventricular thrombus after inferior vena cava (IVC) filter implantation without apparent thrombus in either the deep veins or inside the IVC filter. The biochemical data showed a discrepancy in the level of fibrinogen between the immunological and thrombin time methods, suggesting hypodysfibrinogenemia. The sequencing of the fibrinogen gamma-chain gene (FGG) revealed a novel heterozygous missense mutation in exon 8 -a TGT to TCT transversion in codon 326 -resulting in an amino acid substitution of serine for cysteine (gamma Cys326Ser). The characterization of the protein did not show known mechanisms for thrombosis in dysfibrinogenemia, such as dimer or albumin-binding complex formation. In summary, the current case with a life-threatening thrombotic event was found to have a novel heterozygous missense mutation resulting in gamma Cys326Ser, which was suggested as a predisposing factor of the thrombosis. Known mechanisms responsible for thrombosis in the current case were not demonstrated, suggesting other mechanisms including superimposing inherited and/or acquired risk factors. When a patient presents with unusual thrombosis such as breakthrough pulmonary embolism and huge thrombus in the right ventricle, as in the current case, the laboratory process for heritable thrombophilia should be considered.

• 出版日期2017