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. Author manuscript; available in PMC: 2013 Nov 1.
Published in final edited form as: Am J Med Genet A. 2012 Sep 18;0(11):2829–2834. doi: 10.1002/ajmg.a.35622

Table I.

Demographic and Clinical Characteristics of 171 Patients with HHT and BAVM

Characteristics
Gender (N=171)
     Male (#, %) 69 (40%)
Genotype (N=109)
     ENG mutation (#, %) 75 (69%)
     ACVRL1 mutation (#, %) 18 (17%)
     SMAD4 mutation (#, %) 2 (2%)
     No mutation identified (#, %) 14 (13%)
Age at first BAVM Diagnosis (mean years, SD) (N=165) 29 ± 18
History of ICH (#, %) (N=152) 41 (27%)
Age at ICH (mean years, SD) (N=39) 26 ± 18
History of Seizure (#, %) (N=164) 28 (17%)
Multiple BAVMs (#, %) (N=170) 39 (23%)
Number of BAVMs (mean, SD) (N=170) 1.5 ± 1.3
History of other HHT manifestations
     Epistaxis (#, %) (N=169) 132 (78%)
     Pulmonary AVM (#, %) (N=166) 101 (61%)
     HHT-related GI bleeding (#, %) (N=166) 13 (8%)
     Symptomatic Liver AVM (#, %) (N=161) 5 (3%)

(HHT = Hemorrhagic Hereditary Telangiectasia, BAVM = Brain Arteriovenous Malformation, SD = Standard Deviation, ICH = Intracranial Hemorrhage, AVM = Arteriovenous Malformation, GI = Gastrointestinal)