Multifocal disease progression and subsequent intervention in patients with actin alpha-2 variants: A single-center experience.

OBJECTIVES:To describe patient characteristics and indications for surgical intervention, reoperation, and outcomes in patients with actin alpha-2 (ACTA2) variants. METHODS:A single-center retrospective cohort study with prospective follow-up was performed for 38 patients with an ACTA2 variant. RESULTS:From 1999 to 2020, 26 (70%) patients underwent surgery; 11 remain under surveillance (mean follow-up, 7.5 ± 5 years). Median age at index operation was 42 (range, 10-69) years, with 4 pediatric cases. Thoracic aortic aneurysm was present in 19 (73%) patients (mean adult max diameter, 5.2 ± 0.8 cm; pediatric z score, 10.7 ± 5.4). Aortic dissection was present in 13 (50%) patients, with 4 (15%) having type A dissection. Operations included replacement of the aortic root in 16 (17%), ascending aorta in 20 (77%), and aortic arch in 14 (54%) patients. Four (15%) patients had coronary artery disease, and 2 (7.7%) underwent concomitant coronary artery bypass grafting. There was no operative mortality, stroke, reoperation for bleeding, or dialysis-dependent renal failure; One (3.8%) patient developed acute on chronic kidney injury. Three patients (12%) required prolonged ventilation. Eleven (42%) patients underwent 26 reoperations, median time 45 (range, 4-147) months, including 5 open thoracoabdominal aneurysm repairs. CONCLUSIONS:Patients with ACTA2 variants frequently develop aortic aneurysm and are at risk of aortic dissection and coronary artery disease. However, age at diagnosis and symptoms at presentation are highly variable. Multiple operations are often required for disease management, particularly after dissection. Close monitoring and timely intervention are important in mitigating disease progression and improving outcomes.