Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.
J Pediatr
; 264: 113761, 2024 Jan.
Article
en En
| MEDLINE
| ID: mdl-37797790
ABSTRACT
OBJECTIVE:
To investigate the prevalence and predictors of hereditary hemorrhagic telangiectasia (HHT) and capillary-malformation arteriovenous malformation (CM-AVM) syndrome among children with no prior personal or family history of these diseases who presented with an arteriovenous shunt lesion. STUDYDESIGN:
A retrospective chart review was completed on patients aged 0 through 21 years with arteriovenous shunt lesions evaluated at our Cerebrovascular Center. Diagnosis of definite or suspected HHT or CM-AVM was based on clinical features and genetic testing. Associations between final diagnosis and type and number of lesions, epistaxis, telangiectasias, CM, and pulmonary AVMs were assessed.RESULTS:
Eighty-nine patients were included. Thirteen (14.6%) had definite HHT, 11 (12.4%) suspected HHT, and 4 (4.5%) definite CM-AVM. Having ≥2 episodes of epistaxis/year and ≥ 2 sites with telangiectasias were each associated with definite HHT (P < .001). Having ≥ 2 CM was associated with definite CM-AVM (P < .001). Pulmonary AVM was associated with increased odds of having definite HHT (OR = 6.3, 95% CI 1.2-33.4). Multiple lesions (OR = 24.5, 95% CI 4.5-134.8) and arteriovenous fistulas (OR = 6.2, 95% CI 1.9-20.3) each increased the likelihood of having definite HHT or CM-AVM. Genetic testing was positive in 31% of patients tested.CONCLUSIONS:
We recommend that children with neurovascular shunt lesions be offered genetic testing and undergo further evaluation for HHT and CM-AVM. Awareness and early diagnosis of these conditions is a critical step toward improving long-term outcomes and preventing disease-associated complications.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Telangiectasia Hemorrágica Hereditaria
/
Malformaciones Arteriovenosas Intracraneales
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Fístula Arteriovenosa
Tipo de estudio:
Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
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Screening_studies
Límite:
Child
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Humans
Idioma:
En
Revista:
J Pediatr
Año:
2024
Tipo del documento:
Article