Publication:
Genetics of spontaneous cervical and coronary artery dissections

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dc.contributor.authorMunoz Venturelli, Paula
dc.contributor.authorRada, Isabel
dc.contributor.authorCalderón, Juan
dc.contributor.authorMartínez, Gonzalo
dc.date.accessioned2024-02-26T20:35:50Z
dc.date.available2024-02-26T20:35:50Z
dc.date.issued2023
dc.description.abstractObjectives: Spontaneous cervical artery dissections (SCeAD) and coronary artery dissections (SCoAD) are major causes of neurovascular and cardiovascular morbidity in young adults. Although multiple aspects of their etiology are still unknown, most consensuses are focused on the presence of constitutional genetic aspects and environmental triggers. Since recent evidence of genetic contribution points to a possible overlap between these conditions, we aimed to describe current information on SCeAD and SCoAD genetics and their potential shared pathological aspects. Materials and methods: A narrative review is presented. Publications in English and Spanish were queried using database search. The articles were evaluated by one team member in terms of inclusion criteria. After collecting, the articles were categorized based on scientific content. Results: Given that patients with SCeAD and SCoAD rarely present connective tissue disorders, other genetic loci are probably responsible for the increased susceptibility in some individuals. The common variant rs9349379 at PHACTR1 gene is associated with predisposition to pathologies of the arterial wall, likely mediated by variations in Endothelin-1 (ET-1) levels. The risk of arterial dissection may be increased for those who carry the rs9349379(A) allele, associated with lower expression levels of ET-1; however, the local effect of this vasomotor imbalance remains unclear. Sex differences seen in SCeAD and SCoAD support a role for sex hormones that could modulate risk, tilting the delicate balance and forcing vasodilator actions to prevail over vasoconstriction due to a reduction in ET-1 expression. Conclusions: New evidence points to a common gene variation that could explain dissection in both the cervical and coronary vasculatures. To further confirm the risk conferred by the rs9349379 variant, genome wide association studies are warranted, hopefully in larger and ethnically diverse populations.
dc.description.versionPublicada
dc.identifier.citationRada I, Calderón JF, Martínez G, Muñoz Venturelli P. Genetics of spontaneous cervical and coronary artery dissections. Front Glob Womens Health. 2023 May 5;4:1007795. doi: 10.3389/fgwh.2023.1007795
dc.identifier.doihttps://doi.org/10.3389/fgwh.2023.1007795
dc.identifier.urihttps://hdl.handle.net/11447/8424
dc.language.isoen
dc.subjectCervical artery dissection
dc.subjectCoronary artery dissection
dc.subjectGenetic association
dc.subjectGenetic variation
dc.subjectGenetics
dc.subjectGenetics of artery dissections
dc.subjectVascular disease in women
dc.titleGenetics of spontaneous cervical and coronary artery dissections
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceFrontiers in global women's health
dspace.entity.typePublication
relation.isAuthorOfPublication77bec604-0a16-4d85-aaee-734c326e253a
relation.isAuthorOfPublication.latestForDiscovery77bec604-0a16-4d85-aaee-734c326e253a

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