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Prevalence and Predictors of HHT and CM-AVM Syndrome Among Children with Neurovascular Malformations

Engel, Elissa
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1684771920529809

Abstract Details

2023, MS, University of Cincinnati, Medicine: Clinical and Translational Research.
Background: Intracranial hemorrhage accounts for roughly half of stroke in children, with the majority of cases associated with cerebrovascular malformations. While the majority of vascular malformations are sporadic, a meaningful percentage are associated with systemic syndromes, including hereditary hemorrhagic telangiectasia (HHT) and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. These autosomal dominant conditions can complicate in-hospital management of hemorrhagic stroke. The clinical diagnosis of HHT or CM-AVM in pediatric patients is challenging, as the characteristic skin findings, or epistaxis in HHT, may not present until adulthood, while arteriovenous malformations (AVMs) may be present as early as birth. Genetic testing has played an increasingly important role in diagnosis. To date, 4 genes have been identified as causative for HHT and 2 as causative for CM-AVM syndrome. The aim of this study was to investigate the prevalence and predictors of underlying HHT or CM-AVM among pediatric patients who presented with neurovascular malformations. Methods: A retrospective chart review was completed on patients aged 0-21 years who had brain and/or spine imaging that identified a neurovascular malformation (AVM, arteriovenous fistula (AVF), or vein of Galen malformation (VGaM)). A diagnosis of definite or suspected HHT or CM-AVM was based on clinical signs and symptoms and results of genetic testing. Fisher’s exact test and logistic regression were performed to assess associations between final diagnosis and the presence of multiple neurovascular lesions, epistaxis, telangiectasias, capillary malformations, and pulmonary AVMs (PAVM). Results: Eighty-nine patients met the inclusion criteria, with a median age of 6.7 years (range: 0-19.3 years). Of those who had a complete evaluation (n=63), definite HHT was identified in 13 (20.6%), suspected HHT in 11 (17.5%), and definite CM-AVM in 4 (6.3%). Having ≥ 2 episodes of epistaxis per year (p=0.001) and ≥ 2 sites with telangiectasias (p<0.001) were each associated with a diagnosis of definite HHT (p<0.001) in separate analyses. The presence of at least 2 capillary malformations was associated with a diagnosis of definite CM-AVM (p<0.001). PAVM screening was positive in 9 patients and was associated with a 6-fold increased likelihood of a diagnosis of definite HHT (95% CI: 1.2-33.4). Patients with multiple neurovascular malformations were also 11 times more likely to have definite HHT (95% CI: 2.5-50.6). Overall genetic testing was positive for a HHT or CM-AVM pathogenic or likely pathogenic variant in 31% of patients tested. Conclusion: In this series of 89 pediatric patients with neurovascular malformations, 44.4% of patients who had a complete evaluation met definite (26.9%) or suspected (17.5%) criteria for a syndromic diagnosis of HHT or CM-AVM. Based on these results, we recommend that all pediatric patients who present with a neurovascular AVM, AVF, or VGaM, especially those with multiple lesions, be offered genetic testing and undergo a focused history and physical exam for HHT and CM-AVM. Increased awareness and early diagnosis of these conditions is the first step towards improving long-term outcomes and preventing disease-associated complications in this population.
Scott Langevin, Ph.D. (Committee Chair)
Wei-Wen Hsu, Ph.D. (Committee Member)
Adrienne Hammill, M.D. Ph.D. (Committee Member)
20 p.
Surgery
HHT; AVM; CMAVM; Children; Pediatric

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Citations

  • Engel, E. (2023). Prevalence and Predictors of HHT and CM-AVM Syndrome Among Children with Neurovascular Malformations [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1684771920529809

    APA Style (7th edition)

  • Engel, Elissa. Prevalence and Predictors of HHT and CM-AVM Syndrome Among Children with Neurovascular Malformations. 2023. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1684771920529809.

    MLA Style (8th edition)

  • Engel, Elissa. "Prevalence and Predictors of HHT and CM-AVM Syndrome Among Children with Neurovascular Malformations." Master's thesis, University of Cincinnati, 2023. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1684771920529809

    Chicago Manual of Style (17th edition)

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