Prevalence and Predictors of HHT and CM-AVM in Children
Research By: Elissa Engel, MD | Adrienne Hammill, MD, PhD
Post Date: October 4, 2023 | Publish Date: Oct. 4, 2023
CBDI: Hematology | Top Scientific Achievement
Cerebrovascular events rank among the top 10 leading causes of death in children over 1 year of age in the United States. This study, led by Elissa Engel, MD, Adrienne Hammill, MD, PhD, and colleagues, investigated the prevalence and predictors of stroke from hereditary hemorrhagic telangiectasia (HHT) and capillary malformation–arteriovenous malformation syndrome (CM-AVM) among children with neurovascular malformations.
The research reviewed 89 patients with intracranial vascular malformations, finding that 14.6% had definite HHT, 12.4% had suspected HHT and 4.5% had definite CM-AVM. Significant predictors of definite HHT included clinical features such as epistaxis and telangiectasias. The presence of multiple lesions and arteriovenous fistulas significantly increased the likelihood of having definite HHT or CM-AVM, with odds ratios of 24.5 and 6.2, respectively.
Increased awareness and early diagnosis of these conditions is the first step toward improving long-term outcomes and preventing disease-associated complications in this population.
“Diagnosing HHT or CM-AVM in a pediatric patient can be challenging. A high index of suspicion should be maintained, and these diagnoses considered when a pediatric patient presents with a neurovascular malformation,” Engel says. “Given the high positivity rate and increasing availability and affordability of testing, we recommend that all pediatric patients who present with a neurovascular shunt lesion be counseled and provided the opportunity for genetic testing.”
Next steps involve further research to refine diagnostic criteria and treatment protocols, aiming to enhance patient outcomes and quality of life for children affected by these conditions.
Cincinnati Children’s co-authors included Katie Wusik, LGC, Sudhakar Vadivelu, DO, and J. Michael Taylor, MD. Collaborators also included Philip Bright, BA, University of Kentucky.
Explore the 2024 Research Annual Report
| Original title: | Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations |
| Published in: | Journal of Pediatrics |
| Publish date: | Oct. 4, 2023 |
Latest Posts
About this blog
The Research Horizons blog features news and insights about the latest discoveries and innovations developed by the scientists of Cincinnati Children's. This blog does not provide medical advice, diagnosis, or treatment.
Subscribe to Our Newsletter