ACTA2 Mutation: Microsurgeon Beware!

Abstract

Summary. Patients with the alpha actin 2 genetic mutation suffer early onset aneurismal and vascular-occlusive conditions due to dysfunctional smooth muscle contractility. Outcomes of free flap reconstruction in this patient population are unknown. Here we report the case of a 21-year-old woman with alpha actin 2 mutation who required decompressive hemicraniectomy following an acute stroke. The entire Cushing flap underwent necrosis, requiring debridement and exposing dura. This condition was treated with a free latissimus myocutaneous flap. The patient’s post-operative course was complicated by venous thrombosis, requiring intra-flap tPA and revision of the venous anastomosis with a saphenous vein graft. Ultimately the distal 75% of the flap was lost, leaving the dura exposed. The patient’s course was further complicated by multiple wound healing complications: large areas of necrosis of the latissimus and saphenous vein donor sites, the neck vessel recipient site, and the right hand after IV infiltration. She ultimately healed with a regenerative tissue matrix strategy. Reconstructive options with no or minimal donor site morbidity should be considered in patients with the alpha actin 2 mutation. We encourage further reporting of outcomes in these patients.