Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm

Abstract

Mutations of the ACTA2 gene, which encodes the smooth muscle cell-specific isoform of α-actin protein, have recently been found to be among the most common genetic abnormalities observed in patients with familial thoracic aortic aneurysms/dissection (TAAD). Other reported vascular manifestations caused by these mutations include premature coronary artery disease and stroke. We report a young adult who presented with an acute brachial artery occlusion and was subsequently found to have aortopathy and an ACTA2 mutation. This expands the spectrum of vascular disease associated with ACTA2 mutation to include acute limb ischemia.