The journey of a patient with ACTA2 mutation - literature review and case report

Aortic pathologies are a main part of the cardiovascular disease specter. ACTA2 mutation is the main cause of familial thoracic aortic aneurysms and dissection, which is presented by dilation or dissection of the thoracic aorta in people, who do not have systemic or syndromic connective tissue disorder. The ACTA2 gene encodes the specific alpha-smooth muscle actin, which is an isoform of vascular smooth muscle actin. This mutation mainly leads to aortic pathologies, but it also presents a multisystemic smooth muscle dysfunction. We present a patient with typical clinical findings, consistent with an ACTA2 mutation and the treatment outcomes after consecutive endovascular and surgical interventions. The presentation and the evolution of the clinical symptoms of our patient closely follow the description of the disease in the literature.