Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

Objective

To evaluate the prevalence and phenotype of smooth muscle alpha-actin (ACTA2) mutations in non-syndromic thoracic aortic aneurysms and dissections (TAAD).

Design

Observational study of ACTA2 mutations in TAAD.

Setting

Centre for Inherited Cardiovascular Diseases.

Patients

A consecutive series of 100 patients with TAAD. Exclusion criteria included genetically confirmed Marfan syndrome,...