Review on the current treatment status of vein of Galen malformations and future directions in research and treatment

Abstract

Introduction: Vein of Galen malformations (VOGMs) represent a rare pathologic entity with often catastrophic natural history. The advances in endovascular treatment in recent years have allowed for a paradigm shift in the treatment and outcome of these high-flow shunts, even though their pathogenetic mechanisms and evolution remain in part obscure.

Areas covered: The overall management of VOGMs requires a tailored case-to-case approach, starting with in utero detection and reserving endovascular treatment for indicated cases. Lately, the advances in translational research with whole-genome sequencing and the coupling with cellular-level hemodynamics attempt to shed more light in the pathogenesis and evolution of these lesions. At the same time the advances in endovascular techniques allow for more safety and tailored technical strategy planning. Furthermore, the advances in MRI techniques allow a better understanding of their vascular anatomy. In view of these recent advances and by performing a PUBMED literature review of the last 15 years, we attempt a review of the evolutions in the imaging, management, endovascular treatment and understanding of underlying mechanisms for VOGMs.

Expert opinion: The progress in the fields detailed in this review appears very promising in better understanding VOGMs and expanding the available therapeutic arsenal.

Keywords: Vein of Galen; arteriovenous malformation; arteriovenous shunt; endothelial cell; endovascular embolization; gene mutation; notch signaling; pial arteriovenous malformation; shear stress; vascular endothelial growth factor.