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CC BY-NC-ND 4.0 · AJP Rep 2023; 13(03): e44-e48
DOI: 10.1055/a-2101-7738
Case Report

Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn

Hiromitsu Shirozu 
1   Division of Cardiology, Fukuoka Children's Hospital, Fukuoka, Japan
,
Masako Ichiyama
2   Division of Pediatrics, National Hospital Organization Kokura Medical Center, Fukuoka, Japan
3   Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
,
Masataka Ishimura
3   Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
,
Kuraoka Ayako
1   Division of Cardiology, Fukuoka Children's Hospital, Fukuoka, Japan
,
Naoki Egami
3   Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
,
Kang Dongchon
4   Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan
,
Toshihide Nakano
5   Division of Cardiovascular Surgery, Fukuoka Children's Hospital, Fukuoka, Japan.
,
Koichi Sagawa
1   Division of Cardiology, Fukuoka Children's Hospital, Fukuoka, Japan
,
Shouichi Ohga
3   Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
› Author Affiliations Funding This work was supported by JSPS KAKENHI, Grant Number JP18K07849 (to M.I.).
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Abstract

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 PROS1 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 (MTHFR) 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.

Keywords

ductus arteriosus aneurysm - thrombophilia - protein S deficiency - K196E


Publication History

Received: 07 March 2023

Accepted: 10 May 2023

Accepted Manuscript online:
26 May 2023

Article published online:
21 July 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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