Relação de polimorfismos genéticos específicos como fatores de risco para o desenvolvimento de Malformações Arteriovenosas (MAVs) cerebrais: uma revisão sistemática

Abstract

Arteriovenous Malformations (AVMs) of the brain are vascular lesions that shunt arterial blood directly into a low-resistance system of draining veins without an intervening normal capillary bed. Among the main clinical manifestations (which contribute greatly to the cases of death of this pathology), hemorrhage and seizures are prominent. The pathophysiology of this condition is still poorly understood, but the role of proinflammatory cytokines and genes responsible for these cytokines and cerebral angiogenesis in this process is recognized. The present work aimed to identify the relationship of specific genetic polymorphisms as risk factors for the development of Cerebral Arteriovenous Malformations (AVMs). A systematic review of the literature was performed, using the PRISMA Statement as the research protocol, in the MedLine databse. The terms / descriptors in Health Sciences, in the English language, included in the research of the title were: genetic polymorphism, arteriovenous malformation, single nucleotide polymorphism, genetic linkage, brain arteriovenous malformation, hemorrhage, seizures and headache. Case-control studies were included in this study, where, in the research methodology, the genetic tests used to identify the polymorphism and the presence of AVM in image examination were established. The extraction of articles was done by two authors independently. In all, 208 articles were found, of which only 11 fulfilled the inclusion criteria of this research. The most affected age group was in the range between 35 and 40 years. AVMs, in general, presented with a mean size of 3 to 6 cm. Of the analyzed polymorphisms, all had a direct relationship between having the polymorphism and being an MAV (each with its statistical frequency). And, of the more present clinical manifestations, the hemorrhage was highlighted. It is concluded that more studies should be listed to highlight the role of genetic polymorphisms in this process, in order to improve the therapeutic arsenal to lead this pathology and the prognosis of patients.