The genetic architecture of non-syndromic thoracic aortic aneurysm

Learning objectives To recognise thoracic aortic aneurysm/dissection in young individuals as a genetic condition with autosomal-dominant mode of inheritance. To distinguish clinical features characterising syndromic and non-syndromic forms of thoracic aortic aneurysm and dissection. To review the currently known genetic causes of thoracic aortic aneurysms. Aortic aneurysm/dissection is a common cause of cardiovascular morbidity and mortality in the Western world. In general, two forms have been recognised: abdominal aortic aneurysm/dissection (AAAD) and thoracic aortic aneurysm/dissection (TAAD). Although some genetic predisposition for abdominal aneurysm has been recognised, major risk factors include male sex, age, smoking, hypercholesterolaemia and hypertension. Variants in several genes, including DAB2IP, LRP1, CDKN2B-AS1, CNTN3, LPA and IL6R, and the sortilin-1 (SORT1) locus1–10 have been associated with AAA. In contrast to abdominal...

Source: Heart - September 25, 2015 Category: Cardiology Authors: Luyckx, I., Loeys, B. L., Curriculum topic: Disease of the aorta and trauma to the aorta and heart Tags: Education in Heart, Hypertension, Epidemiology, Metabolic disorders, Tobacco use Source Type: research