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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...

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Autores principales: Imamura, Takeaki, Omura, Takaki, Sasaki, Nobuo, Arino, Satoshi, Nohara, Haruna, Saito, Akira, Ichinose, Maki, Yamaguchi, Kazumasa, Kojima, Naoki, Inagawa, Hiroshi, Takahashi, Katsutoshi, Unno, Toshiyuki, Morisaki, Hiroko, Ishikawa, Osamu, Yoshikawa, Gakushi, Okada, Yasusei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327320/
https://www.ncbi.nlm.nih.gov/pubmed/35911880
http://dx.doi.org/10.3389/fneur.2022.928803
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author Imamura, Takeaki
Omura, Takaki
Sasaki, Nobuo
Arino, Satoshi
Nohara, Haruna
Saito, Akira
Ichinose, Maki
Yamaguchi, Kazumasa
Kojima, Naoki
Inagawa, Hiroshi
Takahashi, Katsutoshi
Unno, Toshiyuki
Morisaki, Hiroko
Ishikawa, Osamu
Yoshikawa, Gakushi
Okada, Yasusei
author_facet Imamura, Takeaki
Omura, Takaki
Sasaki, Nobuo
Arino, Satoshi
Nohara, Haruna
Saito, Akira
Ichinose, Maki
Yamaguchi, Kazumasa
Kojima, Naoki
Inagawa, Hiroshi
Takahashi, Katsutoshi
Unno, Toshiyuki
Morisaki, Hiroko
Ishikawa, Osamu
Yoshikawa, Gakushi
Okada, Yasusei
author_sort Imamura, Takeaki
collection PubMed
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.
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spelling pubmed-93273202022-07-28 Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance Imamura, Takeaki Omura, Takaki Sasaki, Nobuo Arino, Satoshi Nohara, Haruna Saito, Akira Ichinose, Maki Yamaguchi, Kazumasa Kojima, Naoki Inagawa, Hiroshi Takahashi, Katsutoshi Unno, Toshiyuki Morisaki, Hiroko Ishikawa, Osamu Yoshikawa, Gakushi Okada, Yasusei Front Neurol Neurology 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. Frontiers Media S.A. 2022-07-12 /pmc/articles/PMC9327320/ /pubmed/35911880 http://dx.doi.org/10.3389/fneur.2022.928803 Text en Copyright © 2022 Imamura, Omura, Sasaki, Arino, Nohara, Saito, Ichinose, Yamaguchi, Kojima, Inagawa, Takahashi, Unno, Morisaki, Ishikawa, Yoshikawa and Okada. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Imamura, Takeaki
Omura, Takaki
Sasaki, Nobuo
Arino, Satoshi
Nohara, Haruna
Saito, Akira
Ichinose, Maki
Yamaguchi, Kazumasa
Kojima, Naoki
Inagawa, Hiroshi
Takahashi, Katsutoshi
Unno, Toshiyuki
Morisaki, Hiroko
Ishikawa, Osamu
Yoshikawa, Gakushi
Okada, Yasusei
Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance
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 Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327320/
https://www.ncbi.nlm.nih.gov/pubmed/35911880
http://dx.doi.org/10.3389/fneur.2022.928803
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