This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment.
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http://dx.doi.org/10.1055/s-0037-1604298 | DOI Listing |
Childs Nerv Syst
December 2024
Department of Neurosurgery, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsugagun, Tochigi, 321-0293, Japan.
Angiogenesis
November 2023
Department of Translational Neuroscience, Barrow Aneurysm and AVM Research Center, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute, 350 W. Thomas Rd., Phoenix, AZ, 85013, USA.
Background: Longitudinal mouse models of brain arteriovenous malformations (AVMs) are crucial for developing novel therapeutics and pathobiological mechanism discovery underlying brain AVM progression and rupture. The sustainability of existing mouse models is limited by ubiquitous Cre activation, which is associated with lethal hemorrhages resulting from AVM formation in visceral organs. To overcome this condition, we developed a novel experimental mouse model of hereditary hemorrhagic telangiectasia (HHT) with CreER-mediated specific, localized induction of brain AVMs.
View Article and Find Full Text PDFAcad Radiol
March 2023
Massachusetts General Hospital, Boston, MA. Electronic address:
Embolotherapy is the primary treatment for pulmonary arterio-venous malformations (PAVMs). Approximately, 2-25% of PAVMs demonstrate persistence following embolization. Early identification and treatment of persistent PAVMs are critical to mitigating life threatening complications.
View Article and Find Full Text PDFNeuroradiol J
October 2022
Department of Neurosurgery, 26807Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
Background: Pial arteriovenous fistula (AVF) is a vascular fistulous disease in which the cerebral pial artery and vein are directly connected without the intervening nidus within a sub-pial space. Multi-hole pial AVFs, wherein multiple feeders flow into one drainer, are usually formed with complex angioarchitecture and are difficult to treat.
Methods: A rare case of an adult patient with hereditary hemorrhagic telangiectasia and multi-hole pial AVF was described.
Acta Neuropathol Commun
January 2022
Institute for Stroke and Dementia Research (ISD), Klinikum der Universität München, Ludwig-Maximilians-Universität München, Feodor-Lynen-Straße 17, 81377, Munich, Germany.
Cerebral amyloid angiopathy (CAA) is an age-related condition and a major cause of intracerebral hemorrhage and cognitive decline that shows close links with Alzheimer's disease (AD). CAA is characterized by the aggregation of amyloid-β (Aβ) peptides and formation of Aβ deposits in the brain vasculature resulting in a disruption of the angioarchitecture. Capillaries are a critical site of Aβ pathology in CAA type 1 and become dysfunctional during disease progression.
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