Person: Munoz Venturelli, Paula
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Munoz Venturelli
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Paula
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Publication Genetics of spontaneous cervical and coronary artery dissections(2023) Munoz Venturelli, Paula; Rada, Isabel; CalderĆ³n, Juan; MartĆnez, GonzaloObjectives: 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.Publication Stroke and cervical artery dissection and/or aneurysm: 2019-2021 Chilean hospital-based national registry(2025) Allende, Maria; Munoz Venturelli, Paula; Mazzon, Enrico; Brunser, Alejandro; Delgado, Iris; Rebolledo Jaramillo, BorisBackground: Cervical artery dissection is one of the main causes of stroke in young adults, yet the characteristics of patients have been mainly described in Caucasian populations. We aimed to identify patients' characteristics associated with stroke among cervical artery dissection patients in Chile. Methods: We conducted a retrospective analysis of a national hospital-based database in Chile between 2019 and 2021. Patients with cervical artery dissection or aneurysm (CeDA) were identified using ICD-10 codes I72.0 (carotid artery) and I72.6 (vertebral artery); stroke events were classified using codes I60-I64. We performed multivariable logistic regression to evaluate the association between patients' characteristics and stroke occurrence. We further performed Poisson regression to assess the impact of the coronavirus pandemic on CeDA admissions. Results: Of 2,647,398 hospital discharges, we identified 597 CeDA patients (mean [SD] age 57 [15] years; female 384, 64 %). Stroke occurred in 233 (37 %) patients, with ischaemic stroke accounting for 71 % of these events. In the multivariable analysis, stroke occurrence was associated with vertebral artery involvement (OR 2.89; 95 %CI 1.76-4.77), atrial fibrillation (2.25; 1.03-4.90), hypertension (1.85; 1.25-2.74), male sex (1.80; 1.24-2.62) and current smoking (1.78; 1.13-2.80). Hospital admissions for CeDA declined in 2020 (rate ratio [RR] 0.69; 95 %CI 0.57-0.85) and 2021 (0.76; 0.63-0.92), compared with 2019. Conclusions: In this Chilean hospital-based database, stroke occurrence among CeDA patients was linked to male sex, vertebral artery involvement, hypertension, current smoking, and atrial fibrillation. Further research is needed to understand the underlying mechanisms and its association with patient prognosis.