Congenital antithrombin deficiency is an autosomal dominant disease that results in deep venous thrombosis and pulmonary embolism, which is mainly caused by mutations in the antithrombin gene (SERPINC1). Since SERPINC1 is highly susceptible to alterations, severe structural and functional changes that promote thrombosis may occur. Clinical presentations vary from different alterations. We report a pregnant case with novel mutation in SERPINC1 presenting transient antithrombin deficiency and multiple venous thromboembolisms. We report a case of a 36-year-old pregnant patient who was diagnosed with congenital antithrombin deficiency for carrying a novel heterozygous mutation, NM_000488:exon5:c.T9 38 C:p. M313T in SERPINC1 presenting transient antithrombin deficiency and multiple venous thromboembolisms. Thrombolytic with alteplase and anticoagulant therapies with low-molecular-weight heparin and warfarin were administrated. After confirming the genetic analysis and the termination of pregnancy, rivaroxaban was administrated, and the thrombosis reduced. Our study enriched the mutation database of SERPINC1 gene, provided some new theoretical basis for gene diagnosis and genetic counseling of patients with transient antithrombin deficiency. While it still needs for subsequent exploration of molecular pathogenesis.

中文翻译：

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携带 SERPINC1 (p.M313T) 新型突变的妊娠患者发生多发性静脉血栓栓塞，导致暂时性抗凝血酶缺乏：病例报告

先天性抗凝血酶缺乏症是一种导致深静脉血栓和肺栓塞的常染色体显性遗传疾病，主要由抗凝血酶基因（SERPINC1）突变引起。由于 SERPINC1 极易发生改变，因此可能会发生促进血栓形成的严重结构和功能变化。不同的改变导致临床表现有所不同。我们报告了一例 SERPINC1 出现新突变的妊娠病例，表现为短暂的抗凝血酶缺乏和多发性静脉血栓栓塞。我们报告一例 36 岁孕妇，因携带新型杂合突变 NM_000488:exon5:c.T9 38 C:p，被诊断患有先天性抗凝血酶缺乏症。SERPINC1 中的 M313T 表现出短暂的抗凝血酶缺乏和多发性静脉血栓栓塞。给予阿替普酶溶栓以及低分子肝素和华法林抗凝治疗。基因分析确认并终止妊娠后，给予利伐沙班，血栓减少。本研究丰富了SERPINC1基因突变数据库，为短暂性抗凝血酶缺乏症患者的基因诊断和遗传咨询提供了新的理论依据。但仍需后续分子发病机制的探索。