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ACTA2 Mutation and Intracranial Saccular Aneurysm: Case Report and Review of Literature Cover

ACTA2 Mutation and Intracranial Saccular Aneurysm: Case Report and Review of Literature

Journal of Neurointerventional Case Reports
Volume 3 (2026): Issue 1
By: ,   and    
Open Access
|Aug 2026
Figures & tables

Figures & Tables

FIGURE 1.

Initial angiogram demonstrating marked ectasia with fusiform aneurysmal dilatation of the right ICA: (A) lateral and (B) anteroposterior views.

FIGURE 2.

Follow-up angiogram of the right ICA: (A) lateral and (B) anteroposterior views.

FIGURE 3.

Pre-surgical angiogram of the right ICA: (A) lateral and (B) anteroposterior views.

TABLE 1.

Reported ACTA2 variant-associated intracranial artery characteristics.

ACTA2 variant

Pathologic cranial vessel findings

Source

p.Arg179His

  1. Patulous dilatation of petrous ICA

  2. Intracranial Moyamoya-like vascular pattern

[2]

  1. Bilateral fusiform aneurysms of the internal carotid artery from the common carotid to the cavernous sinus

  2. Linearization and stenosis of cerebral arteries with secondary corpus callosum deformity

  3. Cerebral arteriopathy

  4. Ischemic stroke

[7]

  1. Dilatation of proximal carotid arteries

  2. Diffuse occlusive arteriopathy of distal internal carotids and their branches

  3. Linearized intracranial vasculature

  4. Lack of lenticulostriate collaterals

  5. Periventricular/deep white matter signal changes

[8]

  1. Dilatation followed by stenosis of ICA in the cavernous or laceral segments

  2. Intracranial Moyamoya-like vascular pattern

[9]

p.Arg179Cys

  1. Intracranial Moyamoya-like vascular pattern

[2]

  1. Straightening of cerebral vessels

  2. Potential for stroke

[10]

p.Arg179Leu

  1. Intracranial Moyamoya-like vascular pattern

[2]

  1. Intracranial Moyamoya-like vascular pattern

  2. Dilatation followed by stenosis of cavernous ICA

[9]

p.Arg179Ser

  1. Intracranial Moyamoya-like vascular pattern

[2]

p.Met46Arg

  1. Intracranial Moyamoya-like vascular pattern

[2]

p.Arg258Cys

  1. Intracranial Moyamoya-like vascular pattern

[2]

  1. Intracranial Moyamoya-like vascular pattern

[11]

  1. Supraclinoid carotid stenosis with dilated posterior communicating arteries providing compensatory flow

  2. Lack of lenticulostriate collaterals

  3. White matter lesions associated with vessel stenosis

[8]

p.Arg258His

  1. Intracranial Moyamoya-like vascular pattern

[2]

p.Asn117Lys

  1. Patulous dilatation of petrous ICA

  2. Intracranial Moyamoya-like vascular pattern

  3. Brain parenchymal anomalies

  4. Lack of temporal artery tortuosity

[2]

DOI: https://doi.org/10.70355/NICeR.28
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Language: English
Published on: Aug 5, 2026
Published by: Weather Hills Publishing LLC.
In partnership with: Paradigm Publishing Services
Keywords:
ACTA2,
ACTA 2,
intracranial aneurysm,
MSMDS,
ACTA2 mutation,
ACTA 2 mutation,
Intracranial Saccular Aneurysm,
saccular aneurysm

© 2026 Peter Godshall, Peter Harris, Dimitri Sigounas, published by Weather Hills Publishing LLC.
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 3 (2026): Issue 1
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