Hereditary Aortic Aneurysms and Dissections: Clinical Diagnosis and Genetic Testing

Abstract

Hereditary aortic aneurysms and dissections, such as Marfan syndrome, differ in that they occur in younger patients without generally recognized risk factors, have a predilection for the thoracic rather than the abdominal aorta, and are at risk for dissection even at smaller aortic diameters. Early diagnosis, careful follow-up and early intervention, such as aggressive antihypertensive treatment and prophylactic aortic replacement to prevent fatal aortic dissection, are essential for better prognosis. Molecular genetic testing is extremely useful for early diagnosis. However, in actual clinical practice, the question often arises as to when and to which patients genetic testing should be offered, since the outcome of the tests can have important implications for the patient and the relatives. Pre- and post-test genetic counseling is essential for early intervention to be effective.