Endovascular treatment of genetically linked aortic diseases

BACKGROUND: The most important structural proteins of the vascular wall are collagen and elastin. Genetically linked connective tissue diseases lead to degeneration, aneurysm formation and spontaneous dissection or rupture of arteries. The most well-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. OBJECTIVE: This review article addresses the current status of endovascular treatment options for important connective tissue diseases. MATERIAL AND METHODS: Evaluation of currently available randomized studies and registry data. RESULTS: The treatment of choice for patients that are mostly affected at a young age is primarily conservative or open repair. There is only limited evidence for endovascular aortic repair (EVAR) of abdominal aneurysms or thoracic endovascular aortic repair (TEVAR). CONCLUSION: The progression of the disease with dilatation leads to secondary endoleaks and high reintervention rates with uncertain long-term results. For this reason, there is currently consensus that EVAR and TEVAR should be limited to justified exceptional cases and emergency situations in patients with genetically linked aortic diseases.