Background: Brain arteriovenous malformations (BAVM) are a cause of intracranial hemorrhage (ICH).
The basic morphology of BAVM consists of a tangle of abnormal and dilated channels
with intervening gliosis, that directly shunts blood circulation between the arteries
and veins without a true capillary bed. Some gene polymorphisms have been shown to
play an important role in the prediction of the BAVM, in this case, the NOTCH4 gene
polymorphism.
Objectives: The aim of this study was to review systematically and critically previous studies
of the clinical prevalence of NOTCH4 gene polymorphism as a risk fator for the Brain
Arteriovenous Malformations development.
Methods: A systematic literature search was performed using PubMed and Scielo. Selected articles
had to describe a study that provided a prevalence and/or incidence number for the
population with NOTCH4 gene polymorphism and brain arteriovenous malformation.
Results: A total of 85 articles were found, but only thirteen studies reporting the relationship
between the NOTCH4 polymorpohism and brain arteriovenous malformations met the inclusion
criteria. In most of them (approximately 50%), the authors suggest NOTCH4 polymorphism
and the NOTCH signaling pathway as a factor involved in the brain arteriovenous malformations
development.
Conclusions: Although the literature on the prevalence and incidence of NOTCH4 gene polymorphism
is limited, there is a general consensus that this kind of polymorphism can be considered
as possible genetic risk fator in brain arteriovenous malformation development. In
addition, large studies are still needed that can prove the relationship between NOTCH4
and BAVM, so that therapeutics can be created to prevent clinical manifestations of
this kind of disease.
