A MULTIDISCIPLINARY APPROACH TO RARE AND GENETIC AORTIC DISEASE

Background and Aim: Considering the increasing number of genetical diagnosis regarding connective tissue syndromes (Marfan, Ehlers-Danlos, Loeys-Dietz), there is an increasing attention about young patients developing acute aortic syndromes, which can be catastrophic at times. Care of these patients represents a major challenge, due to the variability in timing and severity of the clinical presentation, also determined by the underlying genetic substrate. Methods: In this retrospective study we consider two groups of patients with known connective tissue disease who underwent aortic surgery and were followed at our institution: Group A and Group B, composed by 31 (from 2014 to 2024) and 36 patients (from 2000 to 2010), respectively. We retrieved data of all enrolled patients from the electronic archives of the Institution. Patients’ follow-up data were collected at 8-year average post-intervention. Results: There were no differences between the two groups regarding diagnosis, presence of preoperative risk factors and mortality at follow-up. Re-operation or urgent hospitalization were more frequent in Group B by 16.4% than in Group A (32.4%; N:12 vs 16%; N:5; p= 0.047). There was greater adherence to follow-up (and risk factors control) rate in Group A than Group B (p=0.038). Conclusions: A clinical pathway for rare genetic aortic disease is mandatory. Our team includes dedicated cardiac and vascular surgeons, cardiologists, genetics, radiologists, obstetrics, anesthesiologists. We created a shared tailored clinical protocol for these patients’ needs. Our preliminary experience showed that novel multidimensional approach plays a key role in clinical surveillance of this peculiar population.