Treatment of family syndromic and non syndromic aneurysms of descending thoracic aorta and thoraco-abdominal aorta

Aneurisms are the main disease of the thoracic aorta and their incidence appears difficult to measure in clinic studies. These diseases represent the 13th cause of death in the USA and, while in the past they were typical to be found in elderly people, they are gradually increasing their occurrence in younger categories of patients. Their treatment represents a challenge both for the patient and for the surgeon. Indeed, while the mortality and morbility results have improved in the last decades in the election treatments, the same cannot be said for the urgency treatments. Therefore, the ultimate aim while handling this kind of illnesses is still the prevention of the rupture of the aneurism. The acquisition of new genetic knowledge allowed to identify a series of mutations responsible for familiar forms. These latter are classified as familiar non-sindromic, familiar sindromic or sporadic. The aim of this work is to analyse the most recent observations on genetic aortopathies, particularly in the pathogenesis, diagnosis and therapy.
Bollettino della Società Medico Chirurgica di Pavia, Vol 124, N° 1 (2011)