Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment

Katharina Schimmel; Md Khadem Ali; Serena Y Tan; Joyce Teng; Huy M Do; Gary K Steinberg; David A Stevenson; Edda Spiekerkoetter

doi:10.3390/ijms22169037

Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment

Int J Mol Sci. 2021 Aug 21;22(16):9037. doi: 10.3390/ijms22169037.

Authors

Katharina Schimmel^{1

2}, Md Khadem Ali^{1

2}, Serena Y Tan³, Joyce Teng⁴, Huy M Do^{5

6}, Gary K Steinberg⁶, David A Stevenson⁷, Edda Spiekerkoetter^{1

2}

Affiliations

¹ Division Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, Stanford University, Stanford, CA 94305, USA.
² Vera Moulton Wall Center for Pulmonary Vascular Disease, Stanford University, Stanford, CA 94305, USA.
³ Department of Pathology, Stanford University, Stanford, CA 94305, USA.
⁴ Department of Dermatology, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305, USA.
⁵ Department of Radiology (Neuroimaging and Neurointervention), Stanford University, Stanford, CA 94305, USA.
⁶ Department of Neurosurgery and Stanford Stroke Center, Stanford University, Stanford, CA 94305, USA.
⁷ Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA 94305, USA.

Abstract

Arteriovenous malformations are a vascular anomaly typically present at birth, characterized by an abnormal connection between an artery and a vein (bypassing the capillaries). These high flow lesions can vary in size and location. Therapeutic approaches are limited, and AVMs can cause significant morbidity and mortality. Here, we describe our current understanding of the pathogenesis of arteriovenous malformations based on preclinical and clinical findings. We discuss past and present accomplishments and challenges in the field and identify research gaps that need to be filled for the successful development of therapeutic strategies in the future.

Keywords: arteriovenous malformations; clinical trials; endothelial cell; hereditary hemorrhagic; pathogenesis; repurposed drugs; telangiectasia; vascular anomalies.

Publication types

Review

MeSH terms

Animals
Arteries / pathology
Arteriovenous Malformations / diagnostic imaging
Arteriovenous Malformations / genetics*
Arteriovenous Malformations / pathology
Arteriovenous Malformations / therapy
Disease Models, Animal
Humans
Molecular Targeted Therapy
Receptor Cross-Talk
Veins / pathology

Abstract

Publication types

MeSH terms

Grants and funding