Disease of the wall of the thoracic aorta has many causes: inflammation, infection and atherosclerosis are the most common ‘acquired’ causes, but even these have genetic predispositions. This article deals with aortic disease due to mutations in specific genes. The conditions can affect tissues and organs other than the aorta (syndromic) or be limited to the aorta (nonsyndromic).
A classification scheme based on the gene is emerging, those that affect primarily the extracellular matrix (e.g., FBN1, COL3A1), TGF-β signaling (e.g., TGFBR1, TGFB2), or vascular smooth muscle cell contractility (e.g., ACTA2, MYH11).
Understanding pathogenesis is driving the development of novel therapies, such as angiotensin receptor blockade, which is in clinical trial. However, recurrent imaging, restriction of exercise, β-adrenergic blockade, and prophylactic surgery remain effective in preventing dissection and sudden death.
Correspondence to Reed E. Pyeritz, MD, PhD, William Smilow Professor of Medicine & Professor of Genetics, Vice-chair for Academic Affairs, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Smilow Center for Translational Research, 11-133, 3400 Civic Center Blvd, Philadelphia, PA 19104, USA. Tel: +1 215/573 5746; fax: +1 215/573 8606; e-mail: firstname.lastname@example.org