Perinatology.  2023 Dec;34(4):201-205. 10.14734/PN.2023.34.4.201.

Homozygous SERPINC1 Mutation in Con genital Antithrombin Deficiency: A Unique First Case of Neonatal Cardiac Thrombosis

• An E
• Yang M
• Ahn SY
• Sung SI
• Chang YS

• KMID: 2550374
• DOI: http://doi.org/10.14734/PN.2023.34.4.201

Abstract

Antithrombin (AT) plays a pivotal role as the primary inhibitor of blood coagulation proteases. Hereditary AT deficiency, predominantly attributed to serpin family C member 1 (SERPINC1) gene mutations, is an autosomal-dominant thrombophilic disorder associated with an elevated risk of thrombotic diseases. Due to this mode of inheritence, most cases are reported to be cased by heterozygous mutations, we report a unique case of congenital AT deficiency with a homozygous SERPINC1 that resulted in neonatal cardiac thrombosis. This case underscores the complexity and varied clinical presentations of AT deficiency, emphasizing the importance of early diagnosis and intervention in congenital thrombophilic conditions.

Keyword

Antithrombin III deficiency; SERPINC1 mutation