Aortopathy Including Hereditary Disease (Marfan Syndrome, Bicuspid Aortic Valve, etc.)

Abstract

Marfan syndrome, bicuspid aortic valve, and/or coarctation of the aorta are consistently associated with ascending aortic or para-coarctation medial abnormalities. Medial abnormalities in ascending aorta were prevalent in other type of patients with a variety form of congenital heart disease such as single ventricle, persistent truncus arteriosus, transposition of the great arteries, hypoplastic left heart syndrome, and tetralogy of Fallot, encompassing a wide age range, and may predispose to dilatation, aneurysm, and rapture necessitating aortic valve and root surgery. These congenital heart diseases exhibit ongoing dilatation of the aortic root and reduced aortic elasticity and increased aortic stiffness that may relate to intrinsic properties of the aortic root. These aortic dilatations and increased stiffness can induce aortic aneurysm, rapture of the aorta, and aortic regurgitation but also provoke left ventricular hypertrophy, reduced coronary artery flow, and left ventricular failure. Therefore, this association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction is called as a new clinical entity: “aortopathy”.