Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage

Systematic CVM screening in an unselected adult HHT cohort has a low diagnostic yield for immediately actionable CVMs, but a high rate of incidental findings. However, hemorrhage from undiagnosed CVMs, while devastating, was exclusively observed in HHT Type 1 (ENG) patients in our cohort. Consequently, our findings suggest that a risk-stratified approach, prioritizing HHT Type 1 (ENG), may offer a pragmatic strategy, while acknowledging that the high rate of incidental findings necessitates careful shared decision-making for other genotypes.