Table 3—

Summary of 21 symptomatic children with visceral arteriovenous malformations(AVMs)

Female sex10 (48)
Positive family history17 (81)
Positive genetic testing12 (57) (5 ALK1; 6 ENG; 1 SMAD4)
Positive family genetics#4 (19) (3 ALK1; 1 ENG)
Telangiectasia8 (38)
Epistaxis14 (67)
AVMs
 Pulmonary9 (43)
 Cerebral5 (24)
 Pulmonary and cerebral2 (10)
 Spinal2 (10)
 Hepatic3 (14)
Diagnostic criteria
 Four4 (19)
 Three10 (48)
 Two7 (33)
  • Data are presented as n (%). ALK1: activin receptor-like kinase1 gene; ENG: endoglin gene; SMAD4: SMAD family member 4 gene. #: children untested;: six children had a positive family history of hereditary haemorrhagic telangiectasia and one child had a positive test result for a disease-causing gene mutation.