Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome

Although a reduced FBN1 content has been reported in the aortic media of BAV patients it has been stated that in multiple clinical disorders associated with FBN1 alterations there is no propensity for congenital aortic valve malformations. Our data challenge this consideration, prompting the need for future studies including mutation screening analysis of large families of BAV patients. Moreover, from the practical point of view, our findings underscore the need to optimize the visualization of aortic valve morphology in MFS patients and the importance of comprehensive clinical evaluation of BAV patients to detect clinical features suggestive for inherited connective disorders.