Strong Evidence for Molecular Genetic Risk Assessment in Patients with Aneurysms of the Ascending Aorta

Abstract

Objectives: The genetic origin of thoracic aortic aneurysm (TAA) is well known since 20% of all TAA-patients show a positive family history with co-segregation of causative mutations with disease. Currently, molecular screening of established disease genes discovers the causative mutation only in 20% of familial TAA-patients. Therefore testing is initiated only in a small proportion of patients. A large proportion of TAA-patients will die due to complications of aortic aneurysms. For these patients premature aortic repair is a powerful strategy to prevent acute dissection. To date, the diameter of the dilated aorta is used to decide on surgical intervention. In a German TAA-family we want to demonstrate the usefulness of molecular genetic analysis and mutation detection as an additional and more powerful tool in the assessment of the need for preventive aortic repair.