Thoracic Aortic Dilatation, Aneurysm and Dissection

Abstract

The thoracic aorta is an extremely sophisticated structure which allows for the smooth conversion of pulsatile ventricular output to continuous arterial perfusion. Its sophistication is determined by an increasingly well described network of interacting genes. When these genetic pathways are abnormal, the aorta is pre-disposed to dilation, aneurysm formation and associated risk of dissection. We here review the major genetic pathways involved through discussion of key clinical cases, and highlight areas of uncertainty where rapid advances are being made.