Differential Diagnosis in Heritable Thoracic Aortic Diseases

When a patient presents with an aortic aneurysm or dissection at a relatively young age, it is key to determine which form of heritable thoracic aortic disease is the cause since diagnostic and treatment guidelines differ per diagnosis. However, since many clinical features overlap between the various heritable thoracic aortic diseases, detailed knowledge about the clinical features and genetics is essential for the correct diagnosis. In this chapter five disease entities, other than Aneurysms-Osteoarthritis syndrome, which are well known causes of heritable thoracic aortic disease, will be discussed namely: Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, bicuspid aortic valve and Turner syndrome.