Abstract

Introduction: Familial thoracic aortic aneurysm and aortic dissection (f/TAAD) is a genetic disease defined by disturbance in encoding the major proteins in the smooth muscle cells (SMC) contractile filaments of alpha-actin ACTA2 and myosin heavy chain MYH11, in an autosomal dominant pattern. MYH11 gene mutation is a rare cause of f/TAAD and is identified primarily in families with non-syndromic TAAD, inherited in association with patents ductus arteriosus (PDA).