Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn
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 predispo...
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2023-07-01
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| Series: | American Journal of Perinatology Reports |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/a-2101-7738 |
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| author | Hiromitsu Shirozu Masako Ichiyama Masataka Ishimura Kuraoka Ayako Naoki Egami Kang Dongchon Toshihide Nakano Koichi Sagawa Shouichi Ohga |
| author_facet | Hiromitsu Shirozu Masako Ichiyama Masataka Ishimura Kuraoka Ayako Naoki Egami Kang Dongchon Toshihide Nakano Koichi Sagawa Shouichi Ohga |
| author_sort | Hiromitsu Shirozu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T21:39:14Z |
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| id | doaj.art-296376041fc44dc5b96f700bab500964 |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-03-12T21:39:14Z |
| publishDate | 2023-07-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-296376041fc44dc5b96f700bab5009642023-07-27T05:43:10ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052023-07-011303e44e4810.1055/a-2101-7738Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient NewbornHiromitsu Shirozu0https://orcid.org/0000-0002-4992-5165Masako Ichiyama1Masataka Ishimura2Kuraoka Ayako3Naoki Egami4Kang Dongchon5Toshihide Nakano6Koichi Sagawa7Shouichi Ohga8Division of Cardiology, Fukuoka Children's Hospital, Fukuoka, JapanDivision of Pediatrics, National Hospital Organization Kokura Medical Center, Fukuoka, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, JapanDivision of Cardiology, Fukuoka Children's Hospital, Fukuoka, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, JapanDepartment of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, JapanDivision of Cardiovascular Surgery, Fukuoka Children's Hospital, Fukuoka, Japan.Division of Cardiology, Fukuoka Children's Hospital, Fukuoka, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, JapanDuctus 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.http://www.thieme-connect.de/DOI/DOI?10.1055/a-2101-7738ductus arteriosus aneurysmthrombophiliaprotein S deficiencyK196E |
| spellingShingle | Hiromitsu Shirozu Masako Ichiyama Masataka Ishimura Kuraoka Ayako Naoki Egami Kang Dongchon Toshihide Nakano Koichi Sagawa Shouichi Ohga Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn American Journal of Perinatology Reports ductus arteriosus aneurysm thrombophilia protein S deficiency K196E |
| title | Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn |
| title_full | Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn |
| title_fullStr | Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn |
| title_full_unstemmed | Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn |
| title_short | Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn |
| title_sort | ductus arteriosus aneurysm and pulmonary artery thromboses in a protein s deficient newborn |
| topic | ductus arteriosus aneurysm thrombophilia protein S deficiency K196E |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/a-2101-7738 |
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