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DOI: 10.1055/s-0038-1673158
Molecular biomarkers in a ruptured brain arteriovenous malformation: a systematic review
Publication History
Publication Date:
06 September 2018 (online)
Background: Brain arteriovenous malformation consists of a vascular shunt in which the arterial and venous systems are connected by a malformated capillary bed, being the disorder resulting from a dysfunction in the process of capillary maturation. The pathogenesis and prevalence are unclear. The most common clinical presentation is with intracranial hemorrhage, being the most feared complication that causes an increased rate of morbidity and mortality. Recently, the association of cerebral arteriovenous malformation with genetic polymorphisms and epigenetic factors have been investigated and, then, their role in the pathogenesis and natural course of the disease.
Purposes: This is a systematic review that aims to show the evidence of the association between single nucleotide polymorphisms (SNP) and the risk of intracranial hemorrhage in patients harboring brain arteriovenous malformation (BAVM) and their clinical features.
Methods: A search, based on MOOSE Guideline recommendations, was carried out in Medline and Lilacs databases using the following terms, only one or combination: “brain arteriovenous malformation”, “intracranial hemorrhage” and “genetic polymorphism”. Only primary articles were selected, cohort and case-control studies, being reviews and case report excluded. The last update was performed on March 31, 2017.
Results: Regarding polymorphisms related to bleeding and their location, the following genes were found: Tumor necrosis factor- alpha, Apolipoprotein E, Interleukin-6, CDKN2B (chromosome 9p21), Interleukin-1- beta, Erythropoietin-producing hepatocellular receptor B4, Vascular endothelial growth factor, Interleukin-17, Transforming growth factor receptor – beta2, Matrix Metalloproteinase-9 and NOTCH4. Two articles reported a decreased risk for intracranial hemorrhage, while in the others the risk was increased, either at presentation, subsequent to treatment or new hemorrhage.
Conclusion: Our results showed that multiples SNPs were associated with inflammation and with angiogenesis pathways increasing the risk of intracranial hemorrhage, also there are another SNPs related to a reduced risk of bleeding. Considering the identification of genetic biomarkers regarding susceptibility to hemorrhage, an optimized selection of the patients to the intervention due to remove the nidus of the arteriovenous malformation, could help in a substantial way in the therapeutic decision making.
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No conflict of interest has been declared by the author(s).