De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia

Lauren A Beslow; Timo Krings; Helen Kim; Steven W Hetts; Michael T Lawton; Felix Ratjen; Kevin J Whitehead; James R Gossage; Charles E McCulloch; Marianne Clancy; Negar Bagheri; Marie E Faughnan; Brain Vascular Malformation Consortium HHT Investigator Group

doi:10.1016/j.pediatrneurol.2024.03.013

De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia

Pediatr Neurol. 2024 Mar 22:155:120-125. doi: 10.1016/j.pediatrneurol.2024.03.013. Online ahead of print.

Collaborators

Brain Vascular Malformation Consortium HHT Investigator Group:
Mary E Atherton, Murali M Chakinala, Marianne S Clancy, Marie E Faughnan, James R Gossage, Adrienne M Hammill, Katharine Henderson, Steven Hetts, Peter Hountras, Vivek Iyer, Raj S Kasthuri, Helen Kim, Timo Krings, Michael T Lawton, Doris Lin, Johannes Jurgen Mager, Douglas A Marchuk, Justin P McWilliams, Jamie McDonald, Ludmila Pawlikowska, Jeffrey Pollak, Felix Ratjen, Karen Swanson, Dilini Vethanayagam, Shantel Weinsheimer, Andrew J White, Kevin J Whitehead, Pearce Wilcox

Affiliations

¹ Division of Neurology, Children's Hospital of Philadelphia, Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: beslow@chop.edu.
² Division of Neuroradiology, Toronto Western Hospital and University of Toronto, Toronto, Ontario, Canada.
³ Department of Anesthesia, University of California - San Francisco, San Francisco, California.
⁴ Division of Neurointerventional Radiology, University of California - San Francisco, San Francisco, California.
⁵ Department of Neurosurgery, Barrow Neurological Institute, Phoenix, Arizona.
⁶ Department of Paediatrics, Division of Paediatric Respiratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
⁷ Departments of Internal Medicine and Pediatrics, The University of Utah, Salt Lake City, Utah.
⁸ Department of Medicine, Medical College of Georgia at Augusta University, Augusta, Georgia.
⁹ Department of Epidemiology & Biostatistics, University of California - San Francisco, San Francisco, California.
¹⁰ Cure HHT, Baltimore, Maryland.
¹¹ Toronto HHT Centre, Department of Medicine, St. Michael's Hospital and Li Ka Shing Knowledge Institute, University of Toronto, Toronto, Ontario, Canada.

PMID: 38631080
DOI: 10.1016/j.pediatrneurol.2024.03.013

Abstract

Background: Approximately 10% of people with hereditary hemorrhagic telangiectasia (HHT) have brain vascular malformations (VMs). Few reports describe de novo brain VM formation. International HHT Guidelines recommend initial brain VM screening upon HHT diagnosis in children but do not address rescreening. We aimed to confirm whether brain VMs can form de novo in patients with HHT.

Methods: The Brain Vascular Malformation Consortium HHT project is a 17-center longitudinal study enrolling patients since 2010. We analyzed the database for de novo VMs defined as those detected (1) on follow-up neuroimaging in a patient without previous brain VMs or (2) in a location distinct from previously identified brain VMs and reported those in whom a de novo VM could be confirmed on central neuroimaging review.

Results: Of 1909 patients enrolled, 409 (21%) had brain VMs. Seven patients were recorded as having de novo brain VMs, and imaging was available for central review in four. We confirmed that three (0.7% of individuals with brain VMs) had de novo brain VMs (two capillary malformations, one brain arteriovenous malformation) with intervals of six, nine, and 13 years from initial imaging. Two with de novo brain VMs were <18 years. The fourth patient, a child, did not have a de novo brain VM but had a radiologically confirmed increase in size of an existing brain arteriovenous malformation.

Conclusions: Brain VMs can, albeit rarely, form de novo in patients with HHT. Given the potential risk of hemorrhage from brain VMs, regular rescreening in patients with HHT may be warranted.

Keywords: Brain arteriovenous malformation; Brain vascular malformation; Capillary malformation; De novo; Hereditary hemorrhagic telangiectasia.