Shirozu Hiromitsu, Ichiyama Masako, Ishimura Masataka, Ayako Kuraoka, Egami Naoki, Dongchon Kang, Nakano Toshihide, Sagawa Koichi, Ohga Shouichi
Division of Cardiology, Fukuoka Children's Hospital, Fukuoka, Japan.
Division of Pediatrics, National Hospital Organization Kokura Medical Center, Fukuoka, Japan.
AJP Rep. 2023 Jul 21;13(3):e44-e48. doi: 10.1055/a-2101-7738. eCollection 2023 Jul.
Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase ( ) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.
动脉导管瘤（DAA）在新生儿中无症状发生且可自发消退。具有压迫、破裂和血栓形成等高危情况的DAA需要早期手术干预。新生儿在儿科患者中发生血栓形成的风险最高，但在婴儿期难以确定遗传易感性。我们在此报告一例新生儿DAA和肺动脉内大量血栓形成的病例。一名足月活跃婴儿在出生后2天出现血氧饱和度下降。超声心动图和增强计算机断层扫描显示DAA血栓闭塞和肺动脉血栓形成。成功进行了紧急血栓切除术和动脉导管切除术。抗凝治疗6个月后，蛋白S与蛋白C的血浆活性水平分离提示蛋白S缺乏。基因研究发现了蛋白S K196E的杂合变异，这是日本人群中一种低风险的血栓形成倾向变异。已有7例报告的新生儿期有症状的DAA血栓形成累及肺动脉的病例。5例经手术干预后全部存活且无复发，2例仅接受抗凝治疗。2例新生儿有杂合的亚甲基四氢叶酸还原酶（ ）变异，但其他病例均无血栓形成倾向的相关信息。遗传易感性可能会增加DAA血栓形成的风险，导致病情快速进展。
