Skip to main content

Advertisement

SpringerLink
Log in

Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia

  • Research
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Objective

The brain arteriovenous malformation (BAVM) nidus compactness score (CS), determined on angiography, predicts BAVM recurrence after surgical resection among children with sporadic BAVMs. We measured the angiographic CS for BAVMs among children with hereditary hemorrhagic telangiectasia (HHT) to determine CS characteristics in this population.

Methods

A pediatric interventional neuroradiologist reviewed angiograms to determine the CS of BAVMs in children with HHT recruited to the BVMC. CS is based on overall nidus and perinidal anomalous vessel compactness. CS categories included 1 = diffuse nidus, 2 = intermediate nidus, and 3 = compact nidus.

Results

Forty-eight of 78 children (61.5%) with HHT and brain vascular malformations had a conventional angiogram; 47 (97.9%) angiograms were available. Fifty-four BAVMs were identified in 40 of these 47 children (85.1%). Of 54 BAVMs in children with HHT, CS was 1 in 7 (13%), 2 in 29 (53.7%), and 3 in 18 BAVMs (33.3%) compared with CS of 1 in six (26.1%), 2 in 15 (65.2%), and 3 in 2 BAVMs (8.7%) among 23 previously reported children with sporadic BAVMs, p = 0.045 (Fisher’s exact). Seven children with HHT had intracranial hemorrhage: 4 had CS = 3, 1 had CS = 2, and 2 had CS = 1.

Conclusions

A range of CSs exists across HHT BAVMs, suggesting it may be an angiographic measure of interest for future studies of BAVM recurrence and hemorrhage risk. Children with HHT may have more compact niduses compared to children with sporadic BAVMs. Additional research should determine whether CS affects hemorrhage risk or post-surgical recurrence risk in HHT-associated BAVMs, which could be used to direct BAVM treatment.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request by a qualified investigator.

References

  1. Brinjikji W, Iyer VN, Wood CP, Lanzino G (2017) Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. J Neurosurg 127(2):302–310

    Article  PubMed  Google Scholar 

  2. Kilian A, Latino GA, White AJ et al (2023) Comparing characteristics and treatment of brain vascular malformations in children and adults with HHT. J Clin Med 12(7):2704

    Article  PubMed  PubMed Central  Google Scholar 

  3. Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG (2000) Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 92(5):779–784

    Article  CAS  PubMed  Google Scholar 

  4. Kim H, Nelson J, Krings T et al (2015) Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke 46:1362–1364

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Easey AJ, Wallace GMF, Hughes JMB, Jackson JE, Taylor WJ, Shovlin CL (2003) Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22 061 years of HHT patient life. J Neurol Neurosurg Psychiatry 74:743–748

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Rutledge WC, Ko NU, Lawton MT, Kim H (2014) Hemorrhage rates and risk factors in the natural history course of brain arteriovenous malformations. Transl Stroke Res 5(5):538–542

    Article  PubMed  PubMed Central  Google Scholar 

  7. Lang SS, Beslow LA, Bailey RL et al (2012) Follow-up imaging to detect recurrence of surgically treated pediatric arteriovenous malformations. J Neurosurg Pediatr 9(5):497–504

    Article  PubMed  PubMed Central  Google Scholar 

  8. Frisoli FA, Lang SS, Vossough A et al (2013) Intrarater and interrater reliability of the pediatric arteriovenous malformation compactness score in children. J Neurosurg Pediatr 11(5):547–551

    Article  PubMed  PubMed Central  Google Scholar 

  9. Pawlikowska L, Nelson J, Guo DE et al (2015) The ACVRL1 c.314–35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. Am J Med Genet A 167(6):1262–7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Akers AL, Ball KL, Clancy M et al (2013) Brain vascular malformation consortium: overview, progress and future directions. J Rare Disord 1(1):5

    PubMed  PubMed Central  Google Scholar 

  11. Spetzler RF, Martin NA (1986) A proposed grading system for arteriovenous malformations. J Neurosurg 65(4):476–483

    Article  CAS  PubMed  Google Scholar 

  12. Krings T, Kim H, Power S, Nelson J, Faughnan ME, Young WL, terBrugge KG, the Brain Vascular Malformation Consortium HHT Investigator Group (2015) Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations. Am J Neuroradiol 36:863–870

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Bharatha A, Faughnan ME, Kim H, Pourmohamad T, Krings T, Bayrak-Toydemir P et al (2012) Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment. Stroke 43:72–78

    Article  PubMed  Google Scholar 

  14. Yusuf H, Rasheed A, Kim H, Conrad MB, Hetts SW (2022) Identifying racial disparities in hereditary hemorrhagic telangiectasia. J NeuroIntervent Surg 0:1–6. https://doi.org/10.1136/neurintsurg-2022-019162

    Article  CAS  Google Scholar 

Download references

Funding

The Brain Vascular Malformation Consortium (BVMC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). The BVMC is funded under grant number U54NS065705 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). NCATS and NINDS provide funding support for the DMCC. L.A.B. was supported by a BVMC fellowship, as part of the funding detailed above. L.A.B. was also supported by the Children’s Hospital of Philadelphia Pediatrics Department Chair’s Initiative. M.E.F. was also supported by the Li Ka Shing Knowledge Institute. None of the funding sources directly participated in the study design, data collection, analysis and interpretation of data, writing of the report, or the decision to submit the article for publication.

Author information

Author notes

  1. Marie E. Faughnan and Timo Krings contributed equally.

Authors and Affiliations

  1. Neurology and Pediatrics, Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Penn HHT Center of Excellence and Children’s Hospital of Philadelphia Hereditary Hemorrhagic Telangiectasia Program, 3401 Civic Center Boulevard, Philadelphia, 19104, PA, USA

    Lauren A. Beslow

  2. Radiology, Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Arastoo Vossough

  3. Center for Cerebrovascular Research, Anesthesia, University of California, San Francisco, CA, USA

    Helen Kim & Jeffrey Nelson

  4. Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, USA

    Michael T. Lawton

  5. Vascular & Interventional Radiology, Yale University School of Medicine, New Haven, CT, USA

    Jeffrey Pollak

  6. Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Doris D. M. Lin

  7. Paediatrics and Paediatric Respiratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Felix Ratjen

  8. Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children’s Hospital Medical Center, and Division of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Adrienne M. Hammill

  9. Division of Neurointerventional Radiology, University of California, San Francisco, CA, USA

    Steven W. Hetts

  10. Departments of Critical Care Medicine and Pulmonary Medicine, Augusta University, Augusta, GA, USA

    James R. Gossage

  11. Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah Health, Salt Lake City, UT, USA

    Kevin J. Whitehead

  12. Toronto HHT Centre, Department of Medicine, St. Michael’s Hospital and Li Ka Shing Knowledge Institute, University of Toronto, Toronto, ON, Canada

    Marie E. Faughnan

  13. Division of Neuroradiology, Toronto Western Hospital and University of Toronto, Toronto, ON, Canada

    Timo Krings

Authors
  1. Lauren A. Beslow
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Arastoo Vossough
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Helen Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jeffrey Nelson
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Michael T. Lawton
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jeffrey Pollak
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Doris D. M. Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Felix Ratjen
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Adrienne M. Hammill
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Steven W. Hetts
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. James R. Gossage
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Kevin J. Whitehead
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Marie E. Faughnan
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Timo Krings
    View author publications

    You can also search for this author in PubMed Google Scholar

Consortia

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
  •  & Pearce Wilcox

Contributions

L.A.B. wrote the original draft of the manuscript. A.V. and T.K. prepared the figures. L.A.B., M.F., and T.K. conceptualized the study. L.A.B., A.V., H.K., M.E.F., and T.K. determined the methodology for the study. L.A.B., M.E.F., and T.K. curated the data. L.A.B. and J.N. analyzed the data. M.F. and T.K. provided project administration and resources. H.K. and M.F. acquired funding. All authors participated in data collection and investigation and edited the manuscript for intellectual content.

Corresponding author

Correspondence to Lauren A. Beslow.

Ethics declarations

Conflict interests

The authors declare no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Previous Presentations: The abstract for this work was presented in poster form at the 14th HHT International Scientific Conference in Cascais, Portugal in September 2022 and as an oral presentation at the NIH Rare Diseases Clinical Research Network Fall Investigators’ Meeting in November 2022

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Beslow, L.A., Vossough, A., Kim, H. et al. Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia. Childs Nerv Syst (2024). https://doi.org/10.1007/s00381-024-06366-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s00381-024-06366-z

Keywords

Search

Navigation