Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance
Pregnancy-associated cervicocephalic arterial dissection is rare, and its pathophysiology remains poorly understood. Despite the hypothesized contribution to pathogenesis, connective tissue diseases and genetic factors are rarely identified in clinical cases. We describe a case of postpartum arteria...
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-07-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.928803/full |
| _version_ | 1811225732056088576 |
|---|---|
| author | Takeaki Imamura Takeaki Imamura Takaki Omura Nobuo Sasaki Satoshi Arino Haruna Nohara Akira Saito Maki Ichinose Kazumasa Yamaguchi Naoki Kojima Hiroshi Inagawa Katsutoshi Takahashi Toshiyuki Unno Hiroko Morisaki Osamu Ishikawa Osamu Ishikawa Gakushi Yoshikawa Gakushi Yoshikawa Yasusei Okada |
| author_facet | Takeaki Imamura Takeaki Imamura Takaki Omura Nobuo Sasaki Satoshi Arino Haruna Nohara Akira Saito Maki Ichinose Kazumasa Yamaguchi Naoki Kojima Hiroshi Inagawa Katsutoshi Takahashi Toshiyuki Unno Hiroko Morisaki Osamu Ishikawa Osamu Ishikawa Gakushi Yoshikawa Gakushi Yoshikawa Yasusei Okada |
| author_sort | Takeaki Imamura |
| collection | DOAJ |
| description | Pregnancy-associated cervicocephalic arterial dissection is rare, and its pathophysiology remains poorly understood. Despite the hypothesized contribution to pathogenesis, connective tissue diseases and genetic factors are rarely identified in clinical cases. We describe a case of postpartum arterial dissection involving all four cervicocephalic arteries resulting in acute cerebral infarction. The patient underwent successful endovascular thrombectomy and angioplasty and recovered fully without sequelae. Genetic screening for connective tissue diseases identified a heterozygous missense COL5A1 variant with unknown clinical significance. Two genetically related family members later developed arterial abnormalities, and one of them tested positive for the same COL5A1 gene variant as our patient, while the other was scheduled for genetic testing. The extensive clinical presentation of our patient and the prevalence of arterial abnormalities in her family warrant further assessment of the association between the identified COL5A1 gene variant and the pathogenesis of arterial dissections. |
| first_indexed | 2024-04-12T09:12:24Z |
| format | Article |
| id | doaj.art-2a7740166a6c4cfaafbf5b9f312d2d92 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-12T09:12:24Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-2a7740166a6c4cfaafbf5b9f312d2d922022-12-22T03:38:56ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-07-011310.3389/fneur.2022.928803928803Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown SignificanceTakeaki Imamura0Takeaki Imamura1Takaki Omura2Nobuo Sasaki3Satoshi Arino4Haruna Nohara5Akira Saito6Maki Ichinose7Kazumasa Yamaguchi8Naoki Kojima9Hiroshi Inagawa10Katsutoshi Takahashi11Toshiyuki Unno12Hiroko Morisaki13Osamu Ishikawa14Osamu Ishikawa15Gakushi Yoshikawa16Gakushi Yoshikawa17Yasusei Okada18Department of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanDepartment of Virology, Tohoku University Graduate School of Medicine, Sendai, JapanDepartment of Neurosurgery, The University of Tokyo, Tokyo, JapanDepartment of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanDepartment of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanDepartment of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanDepartment of Neurosurgery, Saitama Medical Centre, Saitama, JapanDepartment of Anesthesiology, Showa General Hospital, Tokyo, JapanDepartment of Intensive Care, Toranomon Hospital, Tokyo, JapanDepartment of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanDepartment of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanDepartment of Metabolism, Showa General Hospital, Tokyo, JapanDepartment of Radiology, Showa General Hospital, Tokyo, JapanDepartment of Medical Genetics, Sakakibara Heart Institute, Tokyo, JapanDepartment of Neurosurgery, The University of Tokyo, Tokyo, Japan0Department of Neurosurgery, Asama General Hospital, Nagano, JapanDepartment of Neurosurgery, The University of Tokyo, Tokyo, Japan1Department of Neurosurgery, Showa General Hospital, Tokyo, JapanDepartment of Emergency and Critical Care Medicine, Showa General Hospital, Tokyo, JapanPregnancy-associated cervicocephalic arterial dissection is rare, and its pathophysiology remains poorly understood. Despite the hypothesized contribution to pathogenesis, connective tissue diseases and genetic factors are rarely identified in clinical cases. We describe a case of postpartum arterial dissection involving all four cervicocephalic arteries resulting in acute cerebral infarction. The patient underwent successful endovascular thrombectomy and angioplasty and recovered fully without sequelae. Genetic screening for connective tissue diseases identified a heterozygous missense COL5A1 variant with unknown clinical significance. Two genetically related family members later developed arterial abnormalities, and one of them tested positive for the same COL5A1 gene variant as our patient, while the other was scheduled for genetic testing. The extensive clinical presentation of our patient and the prevalence of arterial abnormalities in her family warrant further assessment of the association between the identified COL5A1 gene variant and the pathogenesis of arterial dissections.https://www.frontiersin.org/articles/10.3389/fneur.2022.928803/fullpostpartumpregnancycervicocephalic arterial dissectionquadrupleCOL5A1 gene mutation |
| spellingShingle | Takeaki Imamura Takeaki Imamura Takaki Omura Nobuo Sasaki Satoshi Arino Haruna Nohara Akira Saito Maki Ichinose Kazumasa Yamaguchi Naoki Kojima Hiroshi Inagawa Katsutoshi Takahashi Toshiyuki Unno Hiroko Morisaki Osamu Ishikawa Osamu Ishikawa Gakushi Yoshikawa Gakushi Yoshikawa Yasusei Okada Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance Frontiers in Neurology postpartum pregnancy cervicocephalic arterial dissection quadruple COL5A1 gene mutation |
| title | Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance |
| title_full | Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance |
| title_fullStr | Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance |
| title_full_unstemmed | Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance |
| title_short | Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance |
| title_sort | case report spontaneous postpartum quadruple cervicocephalic arterial dissection with a heterozygous col5a1 variant of unknown significance |
| topic | postpartum pregnancy cervicocephalic arterial dissection quadruple COL5A1 gene mutation |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.928803/full |
| work_keys_str_mv | AT takeakiimamura casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT takeakiimamura casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT takakiomura casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT nobuosasaki casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT satoshiarino casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT harunanohara casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT akirasaito casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT makiichinose casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT kazumasayamaguchi casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT naokikojima casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT hiroshiinagawa casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT katsutoshitakahashi casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT toshiyukiunno casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT hirokomorisaki casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT osamuishikawa casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT osamuishikawa casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT gakushiyoshikawa casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT gakushiyoshikawa casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance AT yasuseiokada casereportspontaneouspostpartumquadruplecervicocephalicarterialdissectionwithaheterozygouscol5a1variantofunknownsignificance |