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Summary of 141 patients
Demographics Summary
Sex 
 Male 36.9%
 Female 63.1%
Age (mean) (yr) 45.3
MCD 
 Yes 5
 No 136
HHT mutation 
 Endoglin 35.4%
 ALK 1^{^a} 27.7%
 SMAD4^{^a} 2.8%
 RASA1 0.7%
 Negative × 5 15.6%
 Unknown/not tested 17.7%
AVMs 
 Brain AVM 12.0%
 Brain AVM (possible) 2.8%
 Pulmonary AVM (macroscopic)^{^b} 43.3%
 Pulmonary AVM (microscopic)^{^b} 32.6%
 Spinal AVM 0.7%
 Brain vascular malformations 
 Developmental venous anomaly 14.9%
 Capillary vascular malformation, definite 1.4%
 Capillary vascular malformation, possible 4.3%
Curacao category 
 Definite HHT 79.4%
 Possible or suspected HHT 12.1%
 Probable 4.3%
 Unlikely 4.3%
↵^aALK1 includes 2 variants of unknown significance; SMAD4 includes 1 variant of unknown significance.
↵^bPulmonary AVMs were defined as macroscopic if they were definitely visible on a CT scan and microscopic if contrast echocardiography showed a Grade 1 or greater delayed shunt and the CT findings were negative.