Factors Associated With Aortic Dissection In Patients With Tgfbr1 Or Tgfbr2 Mutations: Results From The Montalcino Aortic Consortium

Introduction: Natural history of patients with TGFBR1 or TGFBR2 mutations is not well known Hypothesis: Physical features may indicate high risk patients Methods: Data were collected on 403 patients with either TGFBR1 or TGFBR2 mutations. We compared the phenotypic features of patients with and without aortic dissection. Results: Patients with aortic dissection were diagnosed when older, suggesting delay in diagnosis being one of the main parameter related to the occurrence of this deadly complication. Features of Loeys Dietz Syndrome (arterial tortuosity, hypertelorism, broad or bifid uvula and wide scars) were more frequently associated with dissection,suggesting that these features may help identifying high risk patients, in whom aortic surgery may have to be proposed earlier. In contrast, the systemic score proposed for the diagnosis of Marfan syndrome was not helpful in recognizing high-risk patients. Of note, a systemic score ≥ 7 was present in 1/5 of the population. The risk of aortic dissection was similar in patients carrying a TGFBR1 mutation or a TGFBR2 mutation (35/159 (22%) vs. 57/244 (23%). However, - The last maximal aortic root diameter before or at the time of type A aortic dissection was greater in TGFBR1 than in TGFBR2 (65 (22) vs. 50 (12)mm ; p= 0.039). - Type B aortic dissection was less frequently reported in TGFBR1 (6% vs 12% of the patients) - Lastly aortic event (surgery or dissection) occurred more frequently in males than in females carrying a TGFBR1 mutation {53.7% of males (median age 27 years [21-39]) and 29.3% of females (34 years [28-44]), p=0.003} but not a TGFBR2 mutation (46.2% of males (median age 32 [20-41]) and 40.5% of females (30 years [19-42], NS} Conclusions: Aortic dissection was associated with delayed/unknown diagnosis, and the presence of clinical features of LDS. The prevalence for aortic events differs between men and women with TGFBR1 mutation but not TGFBR2 mutations