Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiology

Abstract

Aortic aneurysms are a complex genetic disorder with known environmental risk factors such as smoking. Along the length of the aorta, significant heterogeneity occurs in the distribution of aneurysmal disease. The prevalence of aneurysm in the abdominal aorta is at least nine times higher than that in the thoracic section of the aorta. A number of studies have shown that aortic aneurysms are frequently familial, even when they are not associated with rare heritable disorders such as Marfan syndrome or Ehlers-Danlos syndrome type IV. The pathobiology of aortic aneurysms is complex and largely unsolved. Unbiased whole-genome approaches are now being used to elucidate the genetic basis of aortic aneurysms to uncover the germline genetic variants that influence the disease risk. The findings will provide critical information about underlying biology of the disease and will help identify potential targets for pharmacological therapies. These studies may lead to therapies that may increase survival rates for individuals with aortic aneurysms and reduce the need for surgical interventions. Abdominal aortic aneurysms were the topic of an international conference "Abdominal Aortic Aneurysm: Epidemiology, Genetics, and Pathophysiology" held recently at the Geisinger Clinic, Danville, Pennsylvania.