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

Abstract

Background: ACTA2 encodes for smooth muscle alpha-actin protein, which serves a contractile role important to vessel structure and function. Mutations in ACTA2 are implicated in various disease processes that are often systemic and can include intracranial aneurysm and arteriopathies. We support the implication of ACTA2 mutations in intracranial aneurysms and suggest that the underlying vessel anomalies may present unique dynamic properties.

Case Presentation: We present a 32-year-old male with history of ACTA2 mutation diagnosed with bilateral fusiform dilatation of the internal carotid artery (ICA) and saccular aneurysm of the right ICA. He was scheduled for right ICA flow diversion, but the pre-surgical angiogram indicated improvement of the diameter and saccular morphology of the aneurysm, and no intervention was pursued.

Conclusions: This case raises the possibility that ACTA2-associated aneurysms may present with an unconventional disease course. Physicians should account for this potential anomaly when treating and monitoring similar patients.

Keywords: alpha-actin, vascular smooth muscle cells, saccular aneurysm, genetic variant