Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2022 |
| Outros Autores: | , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10451/54741 |
Resumo: | © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attri- bution 4.0 International License, which permits use, sharing, adapta- tion, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
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Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort studyBrain imagingCavernous malformationFamilial cavernous malformation syndromeMagnetic resonance imaging© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attri- bution 4.0 International License, which permits use, sharing, adapta- tion, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.Purpose: There is limited data concerning neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. Our aim was to study the natural history of pediatric FCCM, with an emphasis on symptomatic hemorrhagic events and associated clinical and imaging risk factors. Methods: We retrospectively reviewed all children diagnosed with FCCM in four tertiary pediatric hospitals between January 2010 and March 2022. Subjects with first available brain MRI and [Formula: see text] 3 months of clinical follow-up were included. Neuroimaging studies were reviewed, and clinical data collected. Annual symptomatic hemorrhage risk rates and cumulative risks were calculated using survival analysis and predictors of symptomatic hemorrhagic identified using regression analysis. Results: Forty-one children (53.7% males) were included, of whom 15 (36.3%) presenting with symptomatic hemorrhage. Seven symptomatic hemorrhages occurred during 140.5 person-years of follow-up, yielding a 5-year annual hemorrhage rate of 5.0% per person-year. The 1-, 2-, and 5-year cumulative risks of symptomatic hemorrhage were 7.3%, 14.6%, and 17.1%, respectively. The latter was higher in children with prior symptomatic hemorrhage (33.3%), CCM2 genotype (33.3%), and positive family history (20.7%). Number of brainstem (adjusted hazard ratio [HR] = 1.37, P = 0.005) and posterior fossa (adjusted HR = 1.64, P = 0.004) CCM at first brain MRI were significant independent predictors of prospective symptomatic hemorrhage. Conclusion: The 5-year annual and cumulative symptomatic hemorrhagic risk in our pediatric FCCM cohort equals the overall risk described in children and adults with all types of CCM. Imaging features at first brain MRI may help to predict potential symptomatic hemorrhage at 5-year follow-up.Springer NatureRepositório da Universidade de LisboaGeraldo, Ana FilipaAlves, Cesar Augusto P. F.Luis, AyshaTortora, DomenicoGuimarães, JoanaAbreu, DaisyReimão, SofiaPavanello, Marcode Marco, PatriziaScala, MarcelloCapra, ValeriaVaz, RuiRossi, AndreaSchwartz, Erin SimonMankad, KshitijSeverino, Mariasavina2022-10-11T15:38:15Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/54741engNeuroradiology. 2022 Oct 6. doi: 10.1007/s00234-022-03056-y0028-394010.1007/s00234-022-03056-y1432-1920info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:01:16Zoai:repositorio.ul.pt:10451/54741Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:05:29.305528Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| title |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| spellingShingle |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study Geraldo, Ana Filipa Brain imaging Cavernous malformation Familial cavernous malformation syndrome Magnetic resonance imaging |
| title_short |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| title_full |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| title_fullStr |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| title_full_unstemmed |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| title_sort |
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study |
| author |
Geraldo, Ana Filipa |
| author_facet |
Geraldo, Ana Filipa Alves, Cesar Augusto P. F. Luis, Aysha Tortora, Domenico Guimarães, Joana Abreu, Daisy Reimão, Sofia Pavanello, Marco de Marco, Patrizia Scala, Marcello Capra, Valeria Vaz, Rui Rossi, Andrea Schwartz, Erin Simon Mankad, Kshitij Severino, Mariasavina |
| author_role |
author |
| author2 |
Alves, Cesar Augusto P. F. Luis, Aysha Tortora, Domenico Guimarães, Joana Abreu, Daisy Reimão, Sofia Pavanello, Marco de Marco, Patrizia Scala, Marcello Capra, Valeria Vaz, Rui Rossi, Andrea Schwartz, Erin Simon Mankad, Kshitij Severino, Mariasavina |
| author2_role |
author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
| dc.contributor.author.fl_str_mv |
Geraldo, Ana Filipa Alves, Cesar Augusto P. F. Luis, Aysha Tortora, Domenico Guimarães, Joana Abreu, Daisy Reimão, Sofia Pavanello, Marco de Marco, Patrizia Scala, Marcello Capra, Valeria Vaz, Rui Rossi, Andrea Schwartz, Erin Simon Mankad, Kshitij Severino, Mariasavina |
| dc.subject.por.fl_str_mv |
Brain imaging Cavernous malformation Familial cavernous malformation syndrome Magnetic resonance imaging |
| topic |
Brain imaging Cavernous malformation Familial cavernous malformation syndrome Magnetic resonance imaging |
| description |
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attri- bution 4.0 International License, which permits use, sharing, adapta- tion, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| publishDate |
2022 |
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2022-10-11T15:38:15Z 2022 2022-01-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10451/54741 |
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http://hdl.handle.net/10451/54741 |
| dc.language.iso.fl_str_mv |
eng |
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eng |
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Neuroradiology. 2022 Oct 6. doi: 10.1007/s00234-022-03056-y 0028-3940 10.1007/s00234-022-03056-y 1432-1920 |
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openAccess |
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Springer Nature |
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Springer Nature |
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