title: Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.
abstract: OBJECTIVE
  To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible predictors of arteriovenous malformation (AVM) onset or clinical significance.
  
  
  METHODS
  Prospective cross-sectional survey of all children subjected to screening for AVMs in the multidisciplinary HHT center. All patients proved to be carriers of endoglin mutations or activin A receptor type-II-like kinase 1 mutations, defined as HHT1 and HHT2, respectively. A full clinical-radiological protocol for AVM detection was adopted, independent from presence or absence of AVM-related symptoms.
  
  
  RESULTS
  Forty-four children (mean age, 10.3 years; range, 1-18) were subjected to a comprehensive clinical-radiologic evaluation. This investigation disclosed cerebrovascular malformations in 7 of 44 cases, pulmonary AVMs in 20 of 44 cases, and liver AVMs in 23 of 44 cases. Large visceral AVMs were found in 12 of 44 children and were significantly more frequent in patients with HHT1. Only large AVMs were associated with symptoms and complications.
  
  
  CONCLUSIONS
  Children with HHT have a high prevalence of AVMs; therefore, an appropriate clinical and radiological screening protocol is advisable. Large AVMs can be associated with complications in childhood, whereas small AVMs probably have no clinical risk.
authors.affiliation: Pediatric Unit, Interdisciplinary Department of Medicine, University Hospital of Bari, Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Giordano
authors.forename: Gennaro M
authors.initials: GM
authors.lastname: Lenato
authors.forename: Patrizia
authors.initials: P
authors.lastname: Suppressa
authors.forename: Patrizia
authors.initials: P
authors.lastname: Lastella
authors.forename: Franca
authors.initials: F
authors.lastname: Dicuonzo
authors.forename: Luigi
authors.initials: L
authors.lastname: Chiumarulo
authors.forename: Maria
authors.initials: M
authors.lastname: Sangerardi
authors.forename: Paola
authors.initials: P
authors.lastname: Piccarreta
authors.forename: Raffaella
authors.initials: R
authors.lastname: Valerio
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Scardapane
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marano
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Resta
authors.forename: Nicola
authors.initials: N
authors.lastname: Quaranta
authors.forename: Carlo
authors.initials: C
authors.lastname: Sabbà
mesh_terms: D000293:Adolescent; D001165:Arteriovenous Malformations / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D015995:Prevalence; D011446:Prospective Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000235:genetics