Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia

Abstract

Background and purpose: Cerebral arteriovenous malformations (AVMs) are occasionally associated with hereditary hemorrhagic telangiectasia (HHT), which is characterized by the presence of multiple mucocutaneous telangiectasia, epistaxis, and familial inheritance. We analyzed the angiographic and clinical characteristics of patients with cerebral AVMs related to HHT.

Methods: Among 638 patients with cerebral AVMs, we identified 14 patients with HHT. The AVMs were classified as those with nidi of 1 cm or less (micro AVMs), those with nidi between 1 and 3 cm (small AVMs), and those of the fistulous type (arteriovenous fistulas [AVFs]).

Results: A total of 28 AVMs were found; seven of 14 patients had multiple AVMs. The 28 AVMs were categorized as 12 micro AVMs, eight small AVMs, and eight AVFs. All except one micro AVM were asymptomatic, whereas all small AVMs were symptomatic. Three of eight AVFs were asymptomatic. All 28 AVMs were located on the cortex. All micro AVMs and AVFs had single feeders and single draining veins, whereas the small AVMs had multiple feeders in all lesions and single draining veins in six of eight lesions.

Conclusion: Multiple, cortical, micro AVMs or AVFs harboring single feeding arteries and single draining veins should raise clinical suspicion of HHT-related AVMs.

fig 1.

Angiograms of a 21-year-old man who presented with a grand mal seizure, a history of epistaxis, lower-lip telangiectasia, and a family history of HHT. A, Lateral-view angiogram of the right internal carotid artery shows the small AVM involving right parietal lobe cortex filled by the two branches of the right middle cerebral artery with two draining veins (open arrows). B, Anteroposterior-view angiogram of the vertebral artery shows a second AVM (micro AVM) (arrow), involving the left occipital cortex, fed by a branch of the posterior cerebral artery and draining into a single vein (open arrows). C, Lateral-view angiogram shows another micro AVM (arrow) involving the right occipital lobe cortex supplied by a parieto-occipital artery with a single draining vein (open arrows).

fig 2.

Images from the case of a 15-year-old woman who presented with right hemiplegia, a history of recurrent epistaxis, and a family history of HHT. She was also subsequently diagnosed with a pulmonary AVM. A, Unenhanced CT scan shows an intracerebral hemorrhage and subarachnoid hemorrhage. B, Lateral-view angiogram of the left internal carotid artery shows an AVF (arrow) involving the left frontal lobe cortex, arising from a middle cerebral artery branch, with cortical drainage and venous pouch (open arrow). C, Lateral-view angiogram of the right internal carotid artery shows another AVF (arrow) involving the right parietal cortex supplied by the right pericallosal artery with deep drainage and venous pouch (open arrow).